CBM 95-1 Gaucher Disease January 1984 through January 1995, plus selected earlier citations 594 Citations Prepared by Marian E. Beratan, M.L.S., National Library of Medicine Ellen Sidransky, M.D., National Institute of Mental Health U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES Public Health Service National Institutes of Health National Library of Medicine Reference Section 8600 Rockville Pike Bethesda, Maryland 20894 1995 National Library of Medicine Cataloging in Publication Beratan, Marian E. Gaucher disease : January 1984 through January 1995 plus selected earlier citations : 594 citations / prepared by Marian E. Beratan, Ellen Sidransky. -- Bethesda, Md. (8600 Rockville Pike, Bethesda 20894) : U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Library of Medicine, Reference Section ; Pittsburgh, PA : Sold by the Supt. of Docs., U.S. G.P.O., 1995. -- (Current bibliographies in medicine ; 95-1) Available from NLM at no cost through Internet FTP. Prepared in support of the National Institutes of Health Technology Assessment Conference on Gaucher Disease: Current Issues in Diagnosis and Treatment, held in Bethesda, Md., Feb. 27-Mar. 1, 1995. 1. Gaucher's Disease - bibliography 2. Glucosylceramidase - bibliography I. Sidransky, Ellen II. National Library of Medicine (U.S.). Reference Section III. National Institutes of Health Technology Assessment Conference on Gaucher Disease: Current Issues in Diagnosis and Treatment (1995 : Bethesda, Md.) IV. Title V. Series 02NLM: ZW 1 N272 no.95-1 SERIES NOTE Current Bibliographies in Medicine (CBM) is a continuation in part of the National Library of Medicine's Literature Search Series, which ceased in 1987 with No. 87-15. In 1989 it also subsumed the Specialized Bibliography Series. Each bibliography in the new series covers a distinct subject area of biomedicine and is intended to fulfill a current awareness function. Citations are usually derived from searching a variety of online databases. NLM databases utilized include MEDLINE, AVLINE, BIOETHICSLINE, CANCERLIT, CATLINE, HEALTH, POPLINE and TOXLINE. The only criterion for the inclusion of a particular published work is its relevance to the topic being presented; the format, ownership, or location of the material is not considered. Comments and suggestions on this series may be addressed to: Karen Patrias, Editor Current Bibliographies in Medicine Reference Section National Library of Medicine Bethesda, MD 20894 Phone: 301-496-6097 Fax: 301-402-1384 Internet: patrias@nlm.nih.gov Ordering Information: Current Bibliographies in Medicine is sold by the Superintendent of Documents, U.S. Government Printing Office, P.O. 371954, Pittsburgh, PA 15250-7954. To order the entire CBM series for calendar year 1995 (approximately 10 bibliographies), send $47.00 ($58.75 foreign) to the Superintendent of Documents citing GPO List ID: CBM95. For your convenience an order blank is given inside the back cover. Orders for individual bibliographies in the series ($4.75, $5.94 foreign) should be sent to the Superintendent of Documents citing the title, CBM number, and the GPO List ID given above. Internet Access: The Current Bibliographies in Medicine series is also available at no cost to anyone with Internet access through FTP (File Transfer Protocol). FTP to nlmpubs.nlm.nih.gov and login as anonymous. The index file in the "bibs" directory provides information on the bibliographies available. Use of funds for printing this periodical has been approved by the Director of the Office of Management and Budget through September 30, 1995. GAUCHER DISEASE Gaucher disease is a rare enzyme deficiency disorder which researchers estimate may be present in 10,000 to 20,000 Americans. It is the most frequently inherited disorder in the Ashkenazic Jewish population. Gaucher disease is characterized by a remarkable degree of variability in its clinical signs and symptoms, ranging from severely affected infants to asymptomatic adults. Many patients suffer from anemia, bone damage, and enlarged livers and spleens, while a few develop severe central nervous system damage and die. All Gaucher patients have a genetic defect in the enzyme glucocerebrosidase which results in the accumulation of the lipid glucocerebroside in the lysosome. On the basis of clinical signs and symptoms, patients with Gaucher disease have been classified into three major types: (1) non-neuropathic; (2) acute neuropathic; and (3) subacute neuropathic. The most striking difference among the three types is the presence of neurologic manifestations and the rate of their progression, but even people with the same type of the disorder may differ in clinical presentation. For example, some patients with type 1 Gaucher disease, which is by far the most common type, may display anemia, low blood platelets, massively enlarged livers and spleens, and extensive skeletal disease. In contrast, other type 1 patients may have no symptoms and are identified only during screening or evaluation for other diseases. The gene for the enzyme glucocerebrosidase on chromosome 1q21 has been characterized and sequenced, and multiple mutations in this gene have been identified. Genotypic data is being used to determine to what extent a person's phenotype or prognosis can be accurately predicted through current DNA mutation analysis. While the availability of molecular techniques has made possible early prenatal diagnosis, detection of individuals carrying the disease, and population screening for Gaucher disease, the advisability and usefulness of these techniques remain unresolved. Gaucher disease has been traditionally managed by supportive therapy including total or partial removal of the spleen, transfusions, orthopedic procedures, and occasionally bone marrow transplantation. More recently, enzyme replacement therapy has become available and has proven to be an effective treatment. However, the therapy is quite costly. Researchers are still investigating the optimal doses of this enzyme preparation which may need to be individualized for specific patients, as well as other novel strategies for enzyme therapy and gene therapy. This bibliography was prepared in support of the National Institutes of Health Technology Assessment Conference on Gaucher Disease: Current Issues in Diagnosis and Treatment convened in Bethesda, Maryland on February 27-March 1, 1995. The purpose of the conference was to evaluate current concepts concerning diagnosis, genetic counseling, and management of Gaucher disease in response to the following questions: 1. What is the natural history of Gaucher disease and what is the appropriate technology to assess the severity and to predict the progression of this disorder? 2. What are the roles of current molecular and enzymatic assays for ascertaining affected individuals and carriers in various populations? 3. What are the indications for treatment of patients with Gaucher disease and what are the appropriate modes of therapy? 4. What are the goals for and consequences of treatment and how can the therapeutic interventions be assessed? 5. Under what circumstances could genotype/phenotype correlations be used for patient care and counseling? 6. What are appropriate directions for future research? The bibliography emphasizes journal articles in the English language published between 1984 and the present. Selected dissertations, books, and earlier literature to 1966, as well as editorials and letters to the editor, have also been included. Arrangement of the bibliography is by 11 subject categories. SEARCH STRATEGY A variety of online databases are usually searched in preparing bibliographies in the CBM series. To assist you in updating or otherwise manipulating the material in this search, the strategy used for the NLM's MEDLINE database is given below. Please note that the search strategies presented here differ from individual demand searches in that they are generally broadly formulated and irrelevant citations edited out prior to printing. SS 1 = GAUCHER'S DISEASE SS 2 = GLUCOSYLCERAMIDASE OR GLUCOSYLCERAMIDES OR ALL GLUCOCEREBROSID: SS 3 = (TW) ALGLUCERASE OR CEREDASE OR IMIGLUCERASE OR CEREZYME SS 4 = 1 OR 2 OR 3 SS 5 = JEWS OR JEWISH (TW) OR ASHKENAZI (TW) SS 6 = LYSOSOMAL STORAGE DISEASES OR LYSOSOMES OR METABOLISM, INBORN ERRORS SS 7 = 5 AND 6 SS 8 = GENETIC COUNSELING OR GENETIC SCREENING OR MASS SCREENING SS 9 = ETHICS, MEDICAL OR HEREDITARY DISEASES SS 10 = 8 AND 9 SS 11 = 4 OR 7 OR 10 GRATEFUL MED To make online searching easier and more efficient, the Library offers GRATEFUL MED, microcomputer-based software that provides a user-friendly interface to most NLM databases. This software was specifically developed for health professionals and features multiple choice menus and "fill in the blank" screens for easy search preparation. GRATEFUL MED runs on an IBM PC (or IBM- compatible) with DOS 2.0 or a Macintosh, and requires a Hayes (or Hayes-compatible) modem. It may be purchased from the National Technical Information Service in Springfield, Virginia, for $29.95 (plus $3.00 per order for shipping). For your convenience, an order blank has been enclosed at the back of this bibliography. SAMPLE CITATIONS Citations in this bibliographic series are formatted according to the rules established for Index Medicus*. Sample journal and monograph citations appear below. For journal articles written in a foreign language, the English translation of the title is placed in brackets; for monographs, the title is given in the original language. In both cases the language of publication is shown by a three letter abbreviation appearing at the end of the citation. Note also that a colon (:) may appear within an author's name or article title. The NLM computer system automatically inserts this symbol in the place of a diacritical mark. Journal Article: Authors Article Title Beutler E, Gelbart T. Two new Gaucher disease mutations. Hum Genet 1994 Feb;93(2):209-10. Abbreviated Date Volume Issue Pages Journal Title Monograph: Authors/Editors Title Barranger JA, Brady RO, editors. Molecular basis of lysosomal storage disorders. Orlando (FL): Academic Press; 1984. 502 p. Place of Publisher Date Total No. Publication of Pages _________________________________ *For details of the formats used for references, see the following publication: Patrias, Karen. National Library of Medicine recommended formats for bibliographic citation. Bethesda (MD): The Library; 1991 Apr. Available from: NTIS, Springfield, VA; PB91-182030. TABLE OF CONTENTS Gaucher Disease Reviews Glucocerebrosidase Biochemistry Molecular Biology Mutation Analysis Gaucher Disease Population Genetics Animal Studies Clincal Aspects Enzyme Replacement Gene Therapy Other Therapies Screening for Genetic Disease GAUCHER DISEASE REVIEWS Aerts JM, Van Weely S, Boot R, Hollak CE, Tager JM. Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease. J Inherit Metab Dis 1993;16(2):288-91. Aghion H. La maladie de Gaucher dans l'enfance: forme cardio- renale [doctoral thesis]. Paris: Faculte de Medecine de Paris; 1934. 98 p. Barness LA. Pediatrics. JAMA 1992 Jul 15;268(3):399-401. Barranger JA, Brady RO, editors. Molecular basis of lysosomal storage disorders. Orlando (FL): Academic Press; 1984. 502 p. Beutler E. About Gaucher disease. Nouv Rev Fr Hematol 1989;31(6):383-6. Beutler E. Gaucher disease. Blood Rev 1988 Mar;2(1):59-70. Beutler E. Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci U S A 1993 Jun 15;90(12):5384-90. Beutler E. Gaucher disease: new molecular approaches to diagnosis and treatment. Science 1992 May 8;256(5058):794-9. Beutler E. Gaucher's disease. Compr Ther 1980 Jul;6(7):65-8. Beutler E. Gaucher's disease. N Engl J Med 1991 Nov 7;325(19):1354-60. Beutler E. Modern diagnosis and treatment of Gaucher's disease. Am J Dis Child 1993 Nov;147(11):1175-83. Beutler E. Newer aspects of some interesting lipid storage diseases: Tay-Sachs and Gaucher's diseases. West J Med 1977 Jan;126(1):46-54. Beutler E, Dale GL. Gaucher disease: a century of delineation and research. Enzyme replacement therapy: model and clinical studies. Prog Clin Biol Res 1982;95:703-16. Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, et al., editors. The metabolic basis of inherited disease. 7th ed. New York: McGraw-Hill Information Services Co., Health Professions Division; 1995. p. 2641-70. Brady RO. Cerebral lipidoses. Annu Rev Med 1970;21:317-34. Brady RO. The chemistry and control of hereditary lipid diseases. Chem Phys Lipids 1974 Dec;13(4):271-82. Brady RO. Disorders of lipid metabolism. Biochem Soc Symp 1972;(35):113-27. Brady RO. Inborn errors of lipid metabolism. Adv Enzymol Relat Areas Mol Biol 1973;38:293-315. Brady RO. The lipid storage diseases: new concepts and control. Ann Intern Med 1975 Feb;82(2):257-61. Brady RO. Lysosomal storage diseases. Pharmacol Ther 1982;19(3):327-36. Brady RO. The sphingolipidoses. N Engl J Med 1966 Aug 11;275(6):312-8. Brady RO, Barton NW, Grabowski GA. The role of neurogenetics in Gaucher disease. Arch Neurol 1993 Nov;50(11):1212-24. Desnick RJ, editor. Enzyme therapy in genetic diseases, 2. Symposium; 1979 Mar 4-7; Hilton Head Island, SC. New York: Liss; 1980. 546 p. (Birth defects original article series; vol. 16, no. 1). Sponsored by March of Dimes Birth Defects Foundation and the Mount Sinai School of Medicine. Desnick RJ, Gatt S, Grabowski G, editors. Gaucher disease, a century of delineation and research. Proceedings of the 1st International Symposium on Gaucher Disease; 1981 Jul 22-24; New York. New York: Liss; 1982. 740 p. Desnick RJ, Grabowski GA, Dinur T, Fabbro D, Goldblatt J, Gatt S. Gaucher disease: a membranous enzymopathy. Prog Clin Biol Res 1982;97:193-215. Frenkel EP. Gaucher disease: a heterogeneous clinical complex for which effective enzyme replacement has come of age. Am J Med Sci 1993 May;305(5):331-44. Gaucher PC. De l'epithelioma primitif de la rate: hypertrophie idiopathique de la rate sans leucemie [doctoral thesis]. Paris: Faculte de Medecine de Paris; 1882. 31 p. Glew RH, Basu A, LaMarco KL, Prence EM. Mammalian glucocerebrosidase: implications for Gaucher's disease. Lab Invest 1988 Jan;58(1):5-25. Goldblatt J. Type I Gaucher disease. J Med Genet 1988 Jun;25(6):415-8. Goldman HM. Gaucher's disease. Compendium 1988 Jan;9(1):42-3. Grabowski GA. Gaucher disease. Enzymology, genetics, and treatment. Adv Hum Genet 1993;21:377-441. Grabowski GA, Gatt S, Horowitz M. Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease. Crit Rev Biochem Mol Biol 1990;25(6):385-414. Martin BM, Sidransky E, Ginns EI. Gaucher's disease: advances and challenges. Adv Pediatr 1989;36:277-306. O'Brien JS, Kishimoto Y. Saposin proteins: structure, function, and role in human lysosomal storage disorders. FASEB J 1991 Mar 1;5(3):301-8. Peters SP, Lee RE, Glew RH. Gaucher's disease, a review. Medicine (Baltimore) 1977 Sep;56(5):425-42. Sidransky E, Ginns EI. Clinical heterogeneity among patients with Gaucher's disease [clinical conference]. JAMA 1993 Mar 3;269(9):1154-7. Tager JM, Jonsson LV, Aerts JM, Elferink RP, Schram AW, Erickson AH, Barranger JA. Metabolic consequences of genetic defects in lysosomes. Biochem Soc Trans 1984 Dec;12(6):902-5. Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, Beutler E. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore) 1992 Nov;71(6):337-53. GLUCOCEREBROSIDASE Biochemistry Abe A, Shayman JA, Radin NS. Fluorescence assay of glucosylceramide glucosidase using NBD-cerebroside. Lipids 1992 Dec;27(12):1052-4. Aerts JM, Brul S, Donker-Koopman WE, van Weely S, Murray GJ, Barranger JA, Tager JM, Schram AW. Efficient routing of glucocerebrosidase to lysosomes requires complex oligosaccharide chain formation. Biochem Biophys Res Commun 1986 Dec 15;141(2):452-8. Aerts JM, Donker-Koopman WE, Brul S, Van Weely S, Sa Miranda MC, Barranger JA, Tager JM, Schram AW. Comparative study on glucocerebrosidase in spleens from patients with Gaucher disease. Biochem J 1990 Jul 1;269(1):93-100. Aerts JM, Donker-Koopman WE, Koot M, Murray GJ, Barranger JA, Tager JM, Schram AW. Comparison of the properties of a soluble form of glucocerebrosidase from human urine with those of the membrane-associated tissue enzyme. Biochim Biophys Acta 1986 Dec 1;863(1):63-70. Aerts JM, Donker-Koopman WE, Murray GJ, Barranger JA, Tager JM, Schram AW. A procedure for the rapid purification in high yield of human glucocerebrosidase using immunoaffinity chromatography with monoclonal antibodies. Anal Biochem 1986 May 1;154(2):655-63. Aerts JM, Donker-Koopman WE, van Laar C, Brul S, Murray GJ, Wenger DA, Barranger JA, Tager JM, Schram AW. Relationship between the two immunologically distinguishable forms of glucocerebrosidase in tissue extracts. Eur J Biochem 1987 Mar 16;163(3):583-9. Aerts JM, Sa Miranda MC, Brouwer-Kelder EM, Van Weely S, Barranger JA, Tager JM. Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease. Biochim Biophys Acta 1990 Oct 18;1041(1):55-63. Aerts JM, Sa Miranda MC, Wanzeller de Lacerda L, van Weely S, Donker-Koopman W, Brouwer-Kelder B, Jansen DC, van Leeuwen M, Schram AW, Tsiapara A, et al. The identification of type 1 Gaucher disease patients, asymptomatic cases and carriers in The Netherlands using urine samples: an evaluation. Clin Chim Acta 1991 Dec 16;203(2-3):349-61. Aerts JM, Schram AW, Strijland A, van Weely S, Jonsson LM, Tager JM, Sorrell SH, Ginns EI, Barranger JA, Murray GJ. Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation. Biochim Biophys Acta 1988 Mar 17;964(3):303-8. Agmon V, Cherbu S, Dagan A, Grace M, Grabowski GA, Gatt S. Synthesis and use of novel fluorescent glycosphingolipids for estimating beta-glucosidase activity in vitro in the absence of detergents and subtyping Gaucher disease variants following administration into intact cells. Biochim Biophys Acta 1993 Sep 29;1170(1):72-9. Al BJ, Tiffany CW, Gomes de Mesquita DS, Moser HW, Tager JM, Schram AW. Properties of acid ceramidase from human spleen. Biochim Biophys Acta 1989 Aug 8;1004(2):245-51. Barneveld RA, Tegelaers FP, Ginns EI, Visser P, Laanen EA, Brady RO, Galjaard H, Barranger JA, Reuser AJ, Tager JM. Monoclonal antibodies against human beta-glucocerebrosidase. Eur J Biochem 1983 Aug 15;134(3):585-9. Barton NW, Rosenberg A. Metabolism of glucosyl [13H]ceramide by human skin fibroblasts from normal and glucosylceramidotic subjects. J Biol Chem 1975 May 25;250(10):3966-71. Berg-Fussman A, Grace ME, Ioannou Y, Grabowski GA. Human acid beta-glucosidase. N-glycosylation site occupancy and the effect of glycosylation on enzymatic activity. J Biol Chem 1993 Jul 15;268(20):14861-6. Bergmann JE, Grabowski GA. Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts. Am J Hum Genet 1989 May;44(5):741-50. Beutler E, Kuhl W. The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes. J Lab Clin Med 1970 Nov;76(5):747-55. Beutler E, Kuhl W. Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease. Proc Natl Acad Sci U S A 1986 Oct;83(19):7472-4. Beutler E, Kuhl W, Sorge J. Cross-reacting material in Gaucher disease fibroblasts. Proc Natl Acad Sci U S A 1984 Oct;81(20):6506-10. Beutler E, Kuhl W, Trinidad F, Teplitz R, Nadler H. Beta- glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease. Am J Hum Genet 1971 Jan;23(1):62-6. Beutler E, Kuhl W, Trinidad F, Teplitz R, Nadler H. Detection of Gaucher's disease and its carrier state from fibroblast cultures. Lancet 1970 Aug 15;2(668):369. Bieberich E, Legler G. Intracellular activity of lysosomal glucosylceramidase measured with 4-nonylumbelliferyl beta- glucoside. Biol Chem Hoppe Seyler 1989 Aug;370(8):809-17. Bradova V, Smid F, Ulrich-Bott B, Roggendorf W, Paton BC, Harzer K. Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease. Hum Genet 1993 Sep;92(2):143-52. Brady RO. The enzymatic defect in Gaucher disease. Prog Clin Biol Res 1982;95:309-14. Brady RO. Prenatal diagnosis of lipid storage diseases. Clin Chem 1970 Oct;16(10):811-5. Brady RO, Johnson WG, Uhlendorf BW. Identification of heterozygous carriers of lipid storage diseases. Current status and clinical applications. Am J Med 1971 Oct;51(4):423-31. Brady RO, Kanfer JN, Bradley RM, Shapiro D. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J Clin Invest 1966 Jul;45(7):1112-5. Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II. Evidence of enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 1965;18:221. Butcher BA, Gopalan V, Lee RE, Richards TC, Waggoner AS, Glew RH. Use of 4-heptylumbelliferyl-beta-D-glucoside to identify Gaucher's disease heterozygotes. Clin Chim Acta 1989 Oct 16;184(3):235-42. Carroll M. Gaucher disease (type 1): physical and kinetic properties of liposomal and soluble `acid' beta-glucosidase. J Inherit Metab Dis 1985;8(1):33-7. Chiao YB, Glew RH, Diven WF, Lee RE. Comparison of various beta-glucosidase assays used to diagnose Gaucher's disease. Clin Chim Acta 1980 Jul 17;105(1):41-50. Choy FY. Gaucher disease: comparative study of acid phosphatase and glucocerebrosidase in normal and type-1 Gaucher tissues. Am J Med Genet 1985 Jul;21(3):519-28. Choy FY. Purification of lysosomal membrane-bound glucocerebrosidase from human cultured fibroblasts using high- performance liquid chromatography. Anal Biochem 1989 Jun;179(2):312-8. Choy FY, Woo M. Purification and the effect of peptide N- glycosidase F on lysosomal membrane-bound glucocerebrosidase from human cultured fibroblasts. Biochem Cell Biol 1991 Aug;69(8):551-6. Christomanou H, Aignesberger A, Linke RP. Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant. Biol Chem Hoppe Seyler 1986 Sep;367(9):879-90. Christomanou H, Chabas A, Pampols T, Guardiola A. Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder. Klin Wochenschr 1989 Oct 2;67(19):999-1003. Christomanou H, Kleinschmidt T. Isolation of two forms of an activator protein for the enzymic sphingomyelin degradation from human Gaucher spleen. Biol Chem Hoppe Seyler 1985 Mar;366(3):245-56. Dale GL, Gudas J, Woloszyn W, Beutler E. Electrophoresis of glucocerebrosidase from normal and Gaucher disease fibroblasts. Am J Hum Genet 1979 Jul;31(4):518-21. Daniels LB, Glew RH, Diven WF, Lee RE, Radin NS. An improved fluorometric leukocyte beta-glucosidase assay for Gaucher's disease. Clin Chim Acta 1981 Sep;115(3):369-75. Das PK, Murray GJ, Barranger JA. Studies on the turnover of glucocerebrosidase in cultured rat peritoneal macrophages and normal human fibroblasts. Eur J Biochem 1986 Jan 15;154(2):445-50. DeGasperi R, Alroy J, Richard R, Goyal V, Orgad U, Lee RE, Warren CD. Glycoprotein storage in Gaucher disease: lectin histochemistry and biochemical studies. Lab Invest 1990 Sep;63(3):385-92. Dinur T, Grabowski GA, Desnick RJ, Gatt S. Synthesis of a fluorescent derivative of glucosyl ceramide for the sensitive determination of glucocerebrosidase activity. Anal Biochem 1984 Jan;136(1):223-34. Dinur T, Osiecki KM, Legler G, Gatt S, Desnick RJ, Grabowski GA. Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site. Proc Natl Acad Sci U S A 1986 Mar;83(6):1660-4. Erickson AH, Ginns EI, Barranger JA. Biosynthesis of the lysosomal enzyme glucocerebrosidase. J Biol Chem 1985 Nov 15;260(26):14319-24. Evans MI, Moore C, Kolodny EH, Casassa M, Schulman JD, Landsberger EJ, Karson EM, Dorfmann AD, Larsen JW Jr, Barranger JA. Lysosomal enzymes in chorionic villi, cultured amniocytes, and cultured skin fibroblasts. Clin Chim Acta 1986 May 30;157(1):109-13. Fabbro D, Desnick RJ, Grabowski GA. Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. Am J Hum Genet 1987 Jan;40(1):15-31. Fabbro D, Grabowski GA. Human acid beta-glucosidase. Use of inhibitory and activating monoclonal antibodies to investigate the enzyme's catalytic mechanism and saposin A and C binding sites. J Biol Chem 1991 Aug 15;266(23):15021-7. Forsyth GW, Romero KM, Alverson J, VanderJagt DJ, Glew RH. Variable expression of leukocyte cytosolic broad-specificity beta-glucosidase activity. Clin Chim Acta 1993 Jul 16;216(1-2):11-21. Gatt S, Dinur T, Osiecki K, Desnick RJ, Grabowski GA. Use of activators and inhibitors to define the properties of the active site of normal and Gaucher disease lysosomal beta-glucosidase. Enzyme 1985;33(2):109-19. Gery I, Zigler JS Jr, Brady RO, Barranger JA. Selective effects of glucocerebroside (Gaucher's storage material) on macrophage cultures. J Clin Invest 1981 Nov;68(5):1182-9. Ginns EI, Brady RO, Stowens DW, Furbish FS, Barranger JA. Glucocerebroside-beta-glucosidase isozymes. Prog Clin Biol Res 1982;95:405-14. Ginns EI, Brady RO, Stowens DW, Furbish FS, Barranger JA. A new group of glucocerebrosidase isozymes found in human white blood cells. Biochem Biophys Res Commun 1980 Dec 16;97(3):1103-7. Ginns EI, Erickson A, Tegelaers FP, Barneveld R, Reuser AJ, Brady RO, Tager JM, Barranger JA. Isozymes of beta-glucosidase: determination of Gaucher's disease phenotypes. Isozymes Curr Top Biol Med Res 1983;11:83-93. Ginns EI, Tegelaers FP, Barneveld R, Galjaard H, Reuser AJ, Brady RO, Tager JM, Barranger JA. Determination of Gaucher's disease phenotypes with monoclonal antibody. Clin Chim Acta 1983 Jul 15;131(3):283-7. Glew RH, Gopalan V, Hubbell CA, Devraj RV, Lawson RA, Diven WF, Mannock DA. 2,3-di-O-tetradecyl-1-O-(beta-D-glucopyranosyl)-sn- glycerol is a substrate for human glucocerebrosidase. Biochem J 1991 Mar 1;274(Pt 2):557-63. Grabowski GA, Dagan A. Human lysosomal beta-glucosidase: purification by affinity chromatography. Anal Biochem 1984 Aug 15;141(1):267-79. Grabowski GA, Dinur T, Gatt S, Desnick RJ. Gaucher type I (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate. Clin Chim Acta 1982 Sep 1;124(1):123-35. Grabowski GA, Dinur T, Osiecki KM, Kruse JR, Legler G, Gatt S. Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine. Am J Hum Genet 1985 May;37(3):499-510. Grabowski GA, Gatt S, Kruse J, Desnick RJ. Human lysosomal beta-glucosidase: kinetic characterization of the catalytic, aglycon, and hydrophobic binding sites. Arch Biochem Biophys 1984 May 15;231(1):144-57. Grabowski GA, Goldblatt J, Dinur T, Kruse J, Svennerholm L, Gatt S, Desnick RJ. Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients. Am J Med Genet 1985 Jul;21(3):529-49. Grabowski GA, Ikonne JU, Desnick RJ. Comparative physical, kinetic and immunologic properties of the acidic and neutral alpha-D-mannosidase isozymes from human liver. Enzyme 1980;25(1):13-25. Grabowski GA, Osiecki-Newman K, Dinur T, Fabbro D, Legler G, Gatt S, Desnick RJ. Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes. J Biol Chem 1986 Jun 25;261(18):8263-9. Grabowski GA, White WR, Grace ME. Expression of functional human acid beta-glucosidase in COS-1 and Spodoptera frugiperda cells. Enzyme 1989;41(3):131-42. Grace ME, Graves PN, Smith FI, Grabowski GA. Analyses of catalytic activity and inhibitor binding of human acid beta- glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations. J Biol Chem 1990 Apr 25;265(12):6827-35. Grace ME, Newman KM, Scheinker V, Berg-Fussman A, Grabowski GA. Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. J Biol Chem 1994 Jan 21;269(3):2283-91. Greenberg P, Merrill AH, Liotta DC, Grabowski GA. Human acid beta-glucosidase: use of sphingosyl and N-alkyl-glucosylamine inhibitors to investigate the properties of the active site. Biochim Biophys Acta 1990 May 31;1039(1):12-20. Hamanaka S, Takemoto T, Hamanaka Y, Asagami C, Suzuki M, Suzuki A, Otsuka F. Structure determination of glycosphingolipids of cultured human keratinocytes. Biochim Biophys Acta 1993 Mar 17;1167(1):1-8. Hardy B, Teitelman-Weissman B, Chazan S, Neri A. Glucocerebroside storage in normal monocyte cultures. Biomed Pharmacother 1987;41(1):40-4. Harzer K, Paton BC, Poulos A, Kustermann-Kuhn B, Roggendorf W, Grisar T, Popp M. Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. Eur J Pediatr 1989 Oct;149(1):31-9. Hiraiwa M, O'Brien JS, Kishimoto Y, Galdzicka M, Fluharty AL, Ginns EI, Martin BM. Isolation, characterization, and proteolysis of human prosaposin, the precursor of saposins (sphingolipid activator proteins). Arch Biochem Biophys 1993 Jul;304(1):110-6. Hiraiwa M, Soeda S, Martin BM, Fluharty AL, Hirabayashi Y, O'Brien JS, Kishimoto Y. The effect of carbohydrate removal on stability and activity of saposin B. Arch Biochem Biophys 1993 Jun;303(2):326-31. Hollak CE, van Weely S, van Oers MH, Aerts JM. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 1994 Mar;93(3):1288-92. Holleran WM, Takagi Y, Imokawa G, Jackson S, Lee JM, Elias PM. beta-Glucocerebrosidase activity in murine epidermis: characterization and localization in relation to differentiation. J Lipid Res 1992 Aug;33(8):1201-9. Holleran WM, Takagi Y, Menon GK, Legler G, Feingold KR, Elias PM. Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function. J Clin Invest 1993 Apr;91(4):1656-64. Holtzman E. Lysosomes. New York: Plenum Press; 1989. 439 p. Ito K, Takahashi N, Takahashi A, Shimada I, Arata Y, O'Brien JS, Kishimoto Y. Structural study of the oligosaccharide moieties of sphingolipid activator proteins, saposins A, C and D obtained from the spleen of a Gaucher patient. Eur J Biochem 1993 Jul 1;215(1):171-9. Jonsson LM, Murray GJ, Sorrell SH, Strijland A, Aerts JF, Ginns EI, Barranger JA, Tager JM, Schram AW. Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts. Eur J Biochem 1987 Apr 1;164(1):171-9. Klein A, Henseler M, Klein C, Suzuki K, Harzer K, Sandhoff K. Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo. Biochem Biophys Res Commun 1994 May 16;200(3):1440-8. Kohen E, Kohen C, Hirschberg JG, Santus R, Grabowski G, Mangel W, Gatt S, Prince J. An in situ study of beta-glucosidase activity in normal and Gaucher fibroblasts with fluorogenic probes. Cell Biochem Funct 1993 Sep;11(3):167-77. Lacerda L, Amaral O, Pinto R, Aerts J, Sa Miranda MC. Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis. Biochem Med Metab Biol 1993 Oct;50(2):190-6. Lee RE, Robinson DB, Glew RH. Gaucher's disease. I. Modern enzymatic and anatomic methods of diagnosis. Arch Pathol Lab Med 1981 Feb;105(2):102-4. Louie E, Rafi MA, Wenger DA. Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analysis of certain lysosomal disorders. Clin Chim Acta 1991 May 31;199(1):7-15. Magalhaes J, Sa Miranda MC, Pinto R, Lemos M, Poenaru L. Sodium taurocholate effect on beta-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytes. Clin Chim Acta 1984 Aug 31;141(2-3):111-8. Maret A, Potier M, Salvayre R, Troly M, Beauregard G, Douste- Blazy L. In vitro detergent activation of lysosomal acid beta- glucosidase in the spleen of normal and type 1 Gaucher patients is not accompanied by change in aggregation state. Biochim Biophys Acta 1989 Jul 6;996(3):254-6. Maret A, Salvayre R, Troly M, Douste-Blazy L. Acid lability of the mutated glucosylceramide-beta-glucosidase in a lymphoid cell line from type 2 Gaucher disease. Enzyme 1990;43(2):99-106. Markello TC, Guo J, Gahl WA. High-performance liquid chromatography of lipids for the identification of human metabolic disease. Anal Biochem 1991 Nov 1;198(2):368-74. Mercer DW, Peters SP, Glew RH, Lee RE, Wenger DM. Acid phosphatase isoenzymes in Gaucher's disease. Clin Chem 1977;23(4):631-5. Miao S, McCarter JD, Grace ME, Grabowski GA, Aebersold R, Withers SG. Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry. J Biol Chem 1994 Apr 15;269(15):10975-8. Morimoto S, Kishimoto Y, Tomich J, Weiler S, Ohashi T, Barranger JA, Kretz KA, O'Brien JS. Interaction of saposins, acidic lipids, and glucosylceramidase. J Biol Chem 1990 Feb 5;265(4):1933-7. Morimoto S, Yamamoto Y, O'Brien JS, Kishimoto Y. Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases. Proc Natl Acad Sci U S A 1990 May;87(9):3493-7. Murray GJ, Youle RJ, Gandy SE, Zirzow GC, Barranger JA. Purification of beta-glucocerebrosidase by preparative-scale high-performance liquid chromatography: the use of ethylene glycol-containing buffers for chromatography of hydrophobic glycoprotein enzymes. Anal Biochem 1985 Jun;147(2):301-10. Natowicz MR, Prence EM, Cajolet A. Marked variation in blood beta-hexosaminidase in Gaucher disease. Clin Chim Acta 1991 Nov 9;203(1):17-22. Nilsson O, Grabowski GA, Ludman MD, Desnick RJ, Svennerholm L. Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants. Clin Genet 1985 May;27(5):443-50. Osiecki-Newman K, Legler G, Grace M, Dinur T, Gatt S, Desnick RJ, Grabowski GA. Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites. Enzyme 1988;40(4):173-88. Patrick AD. A deficiency of glucocerebrosidase in Gaucher's disease. Biochem J 1965 Nov;97(2):17C. Pentchev PG, Brady RO, Blair HE, Britton DE, Sorrell SH. Gaucher disease: isolation and comparison of normal and mutant glucocerebrosidase from human spleen tissue. Proc Natl Acad Sci U S A 1978 Aug;75(8):3970-3. Pentchev PG, Neumeyer B, Svennerholm L, Groth CG, Brady RO. Immunological and catalytic quantitation of splenic glucocerebrosidase from the three clinical forms of Gaucher disease. Am J Hum Genet 1983 Jul;35(4):621-8. Plewe M, Sandhoff K, Schmidt RR. Synthesis of 4-C methyl analogues of glucosylceramide. Carbohydr Res 1992 Nov 4;235:151-61. Rafi MA, de Gala G, Zhang XL, Wenger DA. Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency. Somat Cell Mol Genet 1993 Jan;19(1):1-7. Rijnboutt S, Aerts HM, Geuze HJ, Tager JM, Strous GJ. Mannose 6-phosphate-independent membrane association of cathepsin D, glucocerebrosidase, and sphingolipid-activating protein in HepG2 cells. J Biol Chem 1991 Mar 15;266(8):4862-8. Sa Miranda MC, Aerts JM, Pinto R, Fontes A, de Lacerda LW, van Weely S, Barranger J, Tager JM. Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients. Clin Genet 1990 Sep;38(3):218-27. Sa Miranda MC, Aerts JM, Pinto RA, Magalhaes JA, Barranger JA, Tager JM, Schram AW. Heterogeneity in human acid beta- glucosidase revealed by cellulose-acetate electrophoresis. Biochim Biophys Acta 1988 May 12;965(2-3):163-8. Sasagasako N, Kobayashi T, Yamaguchi Y, Shinnoh N, Goto I. Glucosylceramide and glucosylsphingosine metabolism in cultured fibroblasts deficient in acid beta-glucosidase activity. J Biochem (Tokyo) 1994 Jan;115(1):113-9. Shukla A, Radin NS. Metabolism of D-[3H]threo-1-phenyl-2- decanoylamino-3-morpholino-1-propanol, an inhibitor of glucosylceramide synthesis, and the synergistic action of an inhibitor of microsomal monooxygenase. J Lipid Res 1991 Apr;32(4):713-22. Shukla GS, Shukla A, Radin NS. Gangliosides inhibit glucosylceramide synthase: A possible role in ganglioside therapy. J Neurochem 1991 Jun;56(6):2125-32. Steer CJ, Furbish FS, Barranger JA, Brady RO, Jones EA. The uptake of agalacto-glucocerebrosidase by rat hepatocytes and Kupffer cells. FEBS Lett 1978 Jul 15;91(2):202-5. Strasberg P. Evaluation of the biotinylated (Blugene) vs 32P- labeled cDNA probes of beta-glucocerebrosidase: relative sensitivities in genomic and other systems. Clin Chem 1989 Jul;35(7):1512-6. Suzuki M, Sekine M, Yamakawa T, Suzuki A. High-performance liquid chromatography-mass spectrometry of glycosphingolipids: I. Structural characterization of molecular species of GlcCer and IV3 beta Gal-Gb4Cer. J Biochem (Tokyo) 1989 May;105(5):829-33. Svennerholm L, Mansson JE, Rosengren B. Cerebroside-beta- glucosidase activity in Gaucher brain. Clin Genet 1986 Aug;30(2):131-5. Takahashi T, Nishio H, Kodama S, Nakamura H. Beta-glucosidase activity in liver, spleen and brain in acute neuropathic Gaucher disease. Brain Dev 1990;12(2):202-5. Takasaki S, Murray GJ, Furbish FS, Brady RO, Barranger JA, Kobata A. Structure of the N-asparagine-linked oligosaccharide units of human placental beta-glucocerebrosidase. J Biol Chem 1984 Aug 25;259(16):10112-7. Tayama M, O'Brien JS, Kishimoto Y. Distribution of saposins (sphingolipid activator proteins) in tissues of lysosomal storage disease patients. J Mol Neurosci 1992;3(4):171-5. Vaccaro AM, Salvioli R, Gallozzi E, Ciaffoni F, Tatti M. Effect of experimental conditions on the appearance of distinct forms of placental glucosylceramidase: use of gel filtration analysis as a means of ascertaining their occurrence. Biochim Biophys Acta 1990 Oct 22;1047(1):57-62. Vaccaro AM, Tatti M, Ciaffoni F, Salvioli R. Factors affecting the binding of glucosylceramidase to its natural substrate dispersion. Enzyme 1989;42(2):87-97. Vaccaro AM, Tatti M, Ciaffoni F, Salvioli R, Barca A, Roncaioli P. Studies on glucosylceramidase binding to phosphatidylserine liposomes: the role of bilayer curvature. Biochim Biophys Acta 1993 Jun 18;1149(1):55-62. Vaccaro AM, Tatti M, Ciaffoni F, Salvioli R, Maras B, Barca A. Function of saposin C in the reconstitution of glucosylceramidase by phosphatidylserine liposomes. FEBS Lett 1993 Dec 20;336(1):159-62. Vaccaro AM, Tatti M, Ciaffoni F, Salvioli R, Roncaioli P. Reconstitution of glucosylceramidase on binding to acidic phospholipid-containing vesicles. Biochim Biophys Acta 1992 Mar 12;1119(3):239-46. Vaccaro AM, Tatti M, Ciaffoni F, Salvioli R, Serafino A, Barca A. Saposin C induces pH-dependent destabilization and fusion of phosphatidylserine-containing vesicles. FEBS Lett 1994 Aug 1;349(2):181-6. Vaccaro AM, Tatti M, Salvioli R, Ciaffoni F, Gallozzi E. Correlation between the activity of glucosylceramidase and its binding to glucosylceramide-containing liposomes. Role of acidic phospholipids and fatty acids. Biochim Biophys Acta 1990 Jan 29;1033(1):73-9. Van Weely S, Aerts JM, Van Leeuwen MB, Heikoop JC, Donker-Koopman WE, Barranger JA, Tager JM, Schram AW. Function of oligosaccharide modification in glucocerebrosidase, a membrane- associated lysosomal hydrolase. Eur J Biochem 1990 Aug 17;191(3):669-77. van Weely S, Brandsma M, Strijland A, Tager JM, Aerts JM. Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease. Biochim Biophys Acta 1993 Mar 24;1181(1):55-62. van Weely S, van den Berg M, Barranger JA, Sa Miranda MC, Tager JM, Aerts JM. Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease. J Clin Invest 1993 Mar;91(3):1167-75. Van Weely S, Van Leeuwen MB, Jansen ID, De Bruijn MA, Brouwer- Kelder EM, Schram AW, Sa Miranda MC, Barranger JA, Petersen EM, Goldblatt J, et al. Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts. Biochim Biophys Acta 1991 Jun 5;1096(4):301-11. Vanderjagt DJ, Fry DE, Glew RH. Human glucocerebrosidase catalyses transglucosylation between glucocerebroside and retinol. Biochem J 1994 Jun 1;300(Pt 2):309-15. Weiler S, Carson W, Lee Y, Teplow DB, Kishimoto Y, O'Brien JS, Barranger JA, Tomich JM. Synthesis and characterization of a bioactive 82-residue sphingolipid activator protein, saposin C. J Mol Neurosci 1993 Fall;4(3):161-72. Wiederschain GYa, Kozlova IK, Ilyina GS, Mikhaylova MA, Beyer EM. The use of glycosides of 6- and 8-acylamino-4- methylumbelliferone in studies of the specificity and properties of human lysosomal glycolipid hydrolases. Carbohydr Res 1992 Feb 7;224:255. Willemsen R, Brunken R, Sorber CW, Hoogeveen AT, Wisselaar HA, Van Dongen JM, Reuser AJ. A quantitative immunoelectronmicroscopic study on soluble, membrane-associated and membrane-bound lysosomal enzymes in human intestinal epithelial cells. Histochem J 1991 Oct;23(10):467-73. Willemsen R, van Dongen JM, Aerts JM, Schram AW, Tager JM, Goudsmit R, Reuser AJ. An immunoelectron microscopic study of glucocerebrosidase in type 1 Gaucher's disease spleen. Ultrastruct Pathol 1988 Sep-Oct;12(5):471-8. Willemsen R, van Dongen JM, Ginns EI, Sips HJ, Schram AW, Tager JM, Barranger JA, Reuser AJ. Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry. J Neurol 1987 Jan;234(1):44-51. Willemsen R, Wisselaar HA, van der Ploeg AT. Plasmalemmal vesicles are involved in transendothelial transport of albumin, lysosomal enzymes and mannose 6-phosphate receptor fragments in capillary endothelium. Eur J Cell Biol 1990 Apr;51(2):235-41. Molecular Biology Barneveld RA, Keijzer W, Tegelaers FP, Ginns EI, Geurts van Kessel A, Brady RO, Barranger JA, Tager JM, Galjaard H, Westerveld A, Reuser AJ. Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet 1983;64(3):227-31. Beaudet AL. Gaucher's disease [editorial]. N Engl J Med 1987 Mar 5;316(10):619-21. Beutler E, Gelbart T. Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. Ann Hum Genet 1990 May;54(Pt 2):149-53. Beutler E, Kuhl W, Sorge J. Glucocerebrosidase processing and gene expression in various forms of Gaucher disease. Am J Hum Genet 1985 Nov;37(6):1062-70. Beutler E, West C, Gelbart T. Polymorphisms in the human glucocerebrosidase gene. Genomics 1992 Apr;12(4):795-800. Choy FY, Wei C, Applegarth DA, McGillivray BC. DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent. Am J Med Genet 1994 Jun 1;51(2):156-60. Dahl N, Erikson A, Hammarstrom-Heeroma K, Pettersson U. Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase. Genomics 1988 Nov;3(4):296-8. Doll RF, Smith FI. Regulation of expression of the gene encoding human acid beta-glucosidase in different cell types. Gene 1993 May 30;127(2):255-60. Ginns EI, Brady RO, Pirruccello S, Moore C, Sorrell S, Furbish FS, Murray GJ, Tager J, Barranger JA. Mutations of glucocerebrosidase: discrimination of neurologic and non- neurologic phenotypes of Gaucher disease. Proc Natl Acad Sci U S A 1982 Sep;79(18):5607-10. Ginns EI, Choudary PV, Martin BM, Winfield S, Stubblefield B, Mayor J, Merkle-Lehman D, Murray GJ, Bowers LA, Barranger JA. Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system. Biochem Biophys Res Commun 1984 Sep 17;123(2):574-80. Ginns EI, Choudary PV, Tsuji S, Martin B, Stubblefield B, Sawyer J, Hozier J, Barranger JA. Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci U S A 1985 Oct;82(20):7101-5. Glenn D, Gelbart T, Beutler E. Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes. Hum Genet 1994 Jun;93(6):635-8. Graves PN, Grabowski GA, Eisner R, Palese P, Smith FI. Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient. DNA 1988 Oct;7(8):521-8. Graves PN, Grabowski GA, Ludman MD, Palese P, Smith FI. Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts. Am J Hum Genet 1986 Dec;39(6):763-74. Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 1989 Jan;4(1):87-96. Imai K, Nakamura M, Yamada M, Asano A, Yokoyama S, Tsuji S, Ginns EI. A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. Gene 1993 Dec 22;136(1-2):365-8. Lacerda L, Amaral O, Pinto R, Aerts J, Sa Miranda MC. The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism. J Inherit Metab Dis 1994;17(1):85-8. Levy H, Or A, Eyal N, Wilder S, Widgerson M, Kolodny EH, Zimran A, Horowitz M. Molecular aspects of Gaucher disease. Dev Neurosci 1991;13(4-5):352-62. Masuno M, Orii T, Sukegawa K, Taga T. Restriction fragment length polymorphism analysis in healthy Japanese individuals and Japanese families with Gaucher disease. Acta Paediatr Jpn 1989 Apr;31(2):158-62. Mistry PK, Cox TM. The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme. J Med Genet 1993 Nov;30(11):889-94. Reiner O, Horowitz M. Differential expression of the human glucocerebrosidase-coding gene. Gene 1988 Dec 20;73(2):469-78. Reiner O, Wigderson M, Horowitz M. Structural analysis of the human glucocerebrosidase genes. DNA 1988 Mar;7(2):107-16. Reiner O, Wilder S, Givol D, Horowitz M. Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA. DNA 1987 Apr;6(2):101-8. Sorge J, Gelbart T, West C, Westwood B, Beutler E. Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene. Proc Natl Acad Sci U S A 1985 Aug;82(16):5442-5. Sorge J, Gross E, West C, Beutler E. High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease. J Clin Invest 1990 Oct;86(4):1137-41. Sorge J, West C, Westwood B, Beutler E. Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA. Proc Natl Acad Sci U S A 1985 Nov;82(21):7289-93. Sorge JA, West C, Kuhl W, Treger L, Beutler E. The human glucocerebrosidase gene has two functional ATG initiator codons. Am J Hum Genet 1987 Dec;41(6):1016-24. Tsuji S, Choudary PV, Martin BM, Winfield S, Barranger JA, Ginns EI. Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase. J Biol Chem 1986 Jan 5;261(1):50-3. Zimran A, Gelbart T, Beutler E. Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease. Am J Hum Genet 1990 May;46(5):902-5. Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J Clin Invest 1990 Jan;85(1):219-22. Mutation Analysis Amaral O, Fortuna AM, Lacerda L, Pinto R, Sa Miranda MC. Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level. J Med Genet 1994 May;31(5):401-4. Amaral O, Lacerda L, Santos R, Pinto RA, Aerts H, Sa Miranda MC. Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal. Biochem Med Metab Biol 1993 Feb;49(1):97-107. Beutler E, Gelbart T. Gaucher disease mutations in non-Jewish patients. Br J Haematol 1993 Oct;85(2):401-5. Beutler E, Gelbart T. Mutation analysis in Gaucher disease [letter]. Am J Med Genet 1992 Oct 1;44(3):389-90. Comment on: Am J Med Genet 1992 Feb 1;42(3):331-6. Beutler E, Gelbart T. Two new Gaucher disease mutations. Hum Genet 1994 Feb;93(2):209-10. Beutler E, Gelbart T, Kuhl W, Sorge J, West C. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc Natl Acad Sci U S A 1991 Dec 1;88(23):10544-7. Beutler E, Gelbart T, Kuhl W, Zimran A, West C. Mutations in Jewish patients with Gaucher disease. Blood 1992 Apr 1;79(7):1662-6. Beutler E, Gelbart T, West C. The facile detection of the nt 1226 mutation of glucocerebrosidase by `mismatched' PCR. Clin Chim Acta 1990 Dec 24;194(2-3):161-6. Beutler E, Gelbart T, West C. Identification of six new Gaucher disease mutations. Genomics 1993 Jan;15(1):203-5. Choy FY, Woo M, Der Kaloustian VM. Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity. Am J Med Genet 1991 Jun 15;39(4):466-71. Choy FY, Woo M, Der Kaloustian VM. Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region. Am J Med Genet 1991 Dec 15;41(4):469-74. Dahl N, Wadelius C, Anneren G, Gustavson KH. Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type). Prenat Diagn 1992 Jul;12(7):603-8. Eto Y, Kawame H, Hasegawa Y, Ohashi T, Ida H, Tokoro T. Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease. Mol Cell Biochem 1993 Feb 17;119(1-2):179-84. Eyal N, Firon N, Wilder S, Kolodny EH, Horowitz M. Three unique base pair changes in a family with Gaucher disease. Hum Genet 1991 Jul;87(3):328-32. Eyal N, Wilder S, Horowitz M. Prevalent and rare mutations among Gaucher patients. Gene 1990 Dec 15;96(2):277-83. Firon N, Eyal N, Kolodny EH, Horowitz M. Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene. Am J Hum Genet 1990 Mar;46(3):527-32. Glew RH, Gopalan V, Hubbell CA, Beutler E, Geil JD, Lee RE. A case of nonneurologic Gaucher's disease that biochemically resembles the neurologic types. J Neuropathol Exp Neurol 1991 Mar;50(2):108-17. Grace ME, Berg A, He GS, Goldberg L, Horowitz M, Grabowski GA. Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes. Am J Hum Genet 1991 Sep;49(3):646-55. He GS, Grabowski GA. Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta- glucosidase mRNA. Am J Hum Genet 1992 Oct;51(4):810-20. He GS, Grace ME, Grabowski GA. Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants. Hum Mutat 1992;1(5):423-7. Hong CM, Ohashi T, Yu XJ, Weiler S, Barranger JA. Sequence of two alleles responsible for Gaucher disease. DNA Cell Biol 1990 May;9(4):233-41. Horowitz M, Tzuri G, Eyal N, Berebi A, Kolodny EH, Brady RO, Barton NW, Abrahamov A, Zimran A. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Am J Hum Genet 1993 Oct;53(4):921-30. Horowitz M, Zimran A. Mutations causing Gaucher disease. Hum Mutat 1994;3(1):1-11. Kawame H, Eto Y. A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients. Am J Hum Genet 1991 Dec;49(6):1378-80. Published erratum appears in Am J Hum Genet 1992 Apr;50(4):885. Kawame H, Hasegawa Y, Eto Y, Maekawa K. Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms. Hum Genet 1992 Nov;90(3):294-6. Kawame H, Maekawa K, Eto Y. Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes. Hum Mutat 1993;2(5):362-7. Kolodny EH, Firon N, Eyal N, Horowitz M. Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations. Am J Med Genet 1990 Aug;36(4):467-72. Latham T, Grabowski GA, Theophilus BD, Smith FI. Complex alleles of the acid beta-glucosidase gene in Gaucher disease. Am J Hum Genet 1990 Jul;47(1):79-86. Latham TE, Theophilus BD, Grabowski GA, Smith FI. Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. DNA Cell Biol 1991 Jan-Feb;10(1):15-21. Laubscher KH, Glew RH, Lee RE, Okinaka RT. Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene. Hum Mutat 1994;3(4):411-5. Lewis BD, Nelson PV, Robertson EF, Morris CP. Mutation analysis of 28 Gaucher disease patients: the Australasian experience. Am J Med Genet 1994 Jan 15;49(2):218-23. Masuno M, Tomatsu S, Sukegawa K, Orii T. Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form. Hum Genet 1990 Jan;84(2):203-6. Mistry PK, Smith SJ, Ali M, Hatton CS, McIntyre N, Cox TM. Genetic diagnosis of Gaucher's disease. Lancet 1992 Apr 11;339(8798):889-92. Ohashi T, Eto Y. Molecular analysis of Japanese Gaucher disease. J Inherit Metab Dis 1989;12(3):355-8. Ohashi T, Hong CM, Weiler S, Tomich JM, Aerts JM, Tager JM, Barranger JA. Characterization of human glucocerebrosidase from different mutant alleles. J Biol Chem 1991 Feb 25;266(6):3661-7. Ohshima T, Sasaki M, Matsuzaka T, Sakuragawa N. A novel splicing abnormality in a Japanese patient with Gaucher's disease. Hum Mol Genet 1993 Sep;2(9):1497-8. Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet 1993 Jun;52(6):1094-101. Sidransky E, Bottler A, Stubblefield B, Ginns EI. DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? Hum Mutat 1994;3(1):25-8. Sidransky E, Tsuji S, Martin BM, Stubblefield B, Ginns EI. DNA mutation analysis of Gaucher patients. Am J Med Genet 1992 Feb 1;42(3):331-6. Comment in: Am J Med Genet 1992 Oct 1;44(3):389-90. Sidransky E, Tsuji S, Stubblefield BK, Currie J, FitzGibbon EJ, Ginns EI. Gaucher patients with oculomotor abnormalities do not have a unique genotype. Clin Genet 1992 Jan;41(1):1-5. Strasberg PM, Triggs-Raine BL, Warren IB, Skomorowski MA, McInnes B, Becker LE, Callahan JW, Clarke JT. Genotype-phenotype pitfalls in Gaucher disease. J Clin Lab Anal 1994;8(4):228-36. Theophilus B, Latham T, Grabowski GA, Smith FI. Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. Am J Hum Genet 1989 Aug;45(2):212-25. Theophilus BD, Latham T, Grabowski GA, Smith FI. Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene. Nucleic Acids Res 1989 Oct 11;17(19):7707-22. Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, Ginns EI. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med 1987 Mar 5;316(10):570-5. Tsuji S, Martin BM, Barranger JA, Stubblefield BK, LaMarca ME, Ginns EI. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc Natl Acad Sci U S A 1988 Apr;85(7):2349-52. Published erratum appears in Proc Natl Acad Sci U S A 1988 Aug;85(15):5708. Tuteja R, Bembi B, Agosti E, Baralle FE. 1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease. Hum Mol Genet 1993 Jun;2(6):781-4. Tuteja R, Tuteja N, Lilliu F, Bembi B, Galanello R, Cao A, Baralle FE. Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site. Hum Genet 1994 Sep;94(3):314-5. Walley AJ, Barth ML, Ellis I, Fensom AH, Harris A. Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations. J Med Genet 1993 Apr;30(4):280-3. Walley AJ, Harris A. A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease. Hum Mol Genet 1993 Oct;2(10):1737-8. Wigderson M, Firon N, Horowitz Z, Wilder S, Frishberg Y, Reiner O, Horowitz M. Characterization of mutations in Gaucher patients by cDNA cloning. Am J Hum Genet 1989 Mar;44(3):365-77. Zimran A, Glass C, Thorpe VS, Beutler E. Analysis of `color PCR' by automatic DNA sequencer. Nucleic Acids Res 1989 Sep 25;17(18):7538. Zimran A, Horowitz M. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease. Am J Med Genet 1994 Mar 1;50(1):74-8. Zimran A, Kuhl WC, Beutler E. Detection of the 1226 (Jewish) mutation for Gaucher's disease by color PCR. A means for studying the gene frequency of the disorder. Am J Clin Pathol 1990 Jun;93(6):788-91. Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 1989 Aug 12;2(8659):349-52. GAUCHER DISEASE Population Genetics Beutler E, Nguyen NJ, Henneberger MW, Smolec JM, McPherson RA, West C, Gelbart T. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 1993 Jan;52(1):85-8. Goodman RM. Genetic disorders among the Jewish people. Baltimore (MD): Johns Hopkins University Press; 1979. 493 p. Goodman RM, Motulsky AG, editors. Genetic diseases among Ashkenazi Jews. 1st International Symposium on Genetic Diseases Among Ashkenazi Jews; 1977; New York. New York: Raven Press; 1979. 440 p. Grabowski GA, Dinur T, Gatt S, Desnick RJ. Gaucher type I (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis. Prog Clin Biol Res 1982;95:573-95. Iselius L, Hillborg PO, Lindsten J. The distribution of the gene for the juvenile type of Gaucher disease in Sweden. Acta Paediatr Scand 1989 Jul;78(4):592-6. Lacerda L, Amaral O, Pinto R, Oliveira P, Aerts J, Sa Miranda MC. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population. Clin Genet 1994 Jun;45(6):298-300. Matoth Y, Chazan S, Cnaan A, Gelernter I, Klibansky C. Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews. Am J Med Genet 1987 Jul;27(3):561-5. Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 1991 Oct;49(4):855-9. Animal Studies Atsumi S, Nosaka C, Iinuma H, Umezawa K. Accumulation of tissue glucosylsphingosine in Gaucher-like mouse induced by the glucosylceramidase inhibitor cyclophellitol. Arch Biochem Biophys 1993 Jul;304(1):302-4. Atsumi S, Nosaka C, Iinuma H, Umezawa K. Inhibition of glucocerebrosidase and induction of neural abnormality by cyclophellitol in mice. Arch Biochem Biophys 1992 Sep;297(2):362-7. Carstea ED, Murray GJ, O'Neill RR. Molecular and functional characterization of the murine glucocerebrosidase gene. Biochem Biophys Res Commun 1992 May 15;184(3):1477-83. Das PK, Murray GJ, Gal AE, Barranger JA. Glucocerebrosidase deficiency and lysosomal storage of glucocerebroside induced in cultured macrophages. Exp Cell Res 1987 Feb;168(2):463-74. Datta SC, Radin NS. Normalization of liver glucosylceramide levels in the Gaucher mouse by phosphatidylserine injection. Biochem Biophys Res Commun 1988 Apr 15;152(1):155-60. Farrow BR, Hartley WJ, Pollard AC, Fabbro D, Grabowski GA, Desnick RJ. Gaucher disease in the dog. Prog Clin Biol Res 1982;95:645-53. Holleran WM, Ginns EI, Menon GK, Grundmann JU, Fartasch M, McKinney CE, Elias PM, Sidransky E. Consequences of beta- glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest 1994 Apr;93(4):1756-64. O'Neill RR, Tokoro T, Kozak CA, Brady RO. Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences. Proc Natl Acad Sci U S A 1989 Jul;86(13):5049-53. Tybulewicz VL, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP, et al. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 1992 Jun 4;357(6377):407-10. Clinical Aspects Airo R, Gabusi G, Guindani M. Gaucher's disease associated with monoclonal gammapathy of undetermined significance: a case report. Haematologica 1993 Mar-Apr;78(2):129-31. Aker M, Zimran A, Abrahamov A, Horowitz M, Matzner Y. Abnormal neutrophil chemotaxis in Gaucher disease. Br J Haematol 1993 Feb;83(2):187-91. Ashkenazi A, Zaizov R, Matoth Y. Effect of splenectomy on destructive bone changes in children with chronic (Type I) Gaucher disease. Eur J Pediatr 1986 Apr;145(1-2):138-41. Aspestrand F, Charania B, Scheel B, Kolmannskog F, Jacobsen M. Focal changes of the spleen in one case of Gaucher disease-- assessed by ultrasonography, CT, MRI and angiography. Radiologe 1989 Nov;29(11):569-71. Atlan H, Sigal R, Hadar H, Chisin R, Cohen I, Lanir A, Soudry M, Machtey Y, Schreiber R, Benmair J. Nuclear magnetic resonance proton imaging of bone pathology. J Nucl Med 1986 Feb;27(2):207-15. Bar-Maor JA, Govrin-Yehudain J. Partial splenectomy in children with Gaucher's disease. Pediatrics 1985 Sep;76(3):398-401. Barness L, Gilbert-Barness E. Pathological case of the month. Glucosylceramide lipidosis type I (Gaucher disease). Am J Dis Child 1992 Mar;146(3):369-70. Barton DJ, Ludman MD, Benkov K, Grabowski GA, LeLeiko NS. Resting energy expenditure in Gaucher's disease type 1: effect of Gaucher's cell burden on energy requirements. Metabolism 1989 Dec;38(12):1238-43. Bell RS, Mankin HJ, Doppelt SH. Osteomyelitis in Gaucher disease. J Bone Joint Surg [Am] 1986 Dec;68(9):1380-8. Belmatoug N, de Bandt M, Oksenhendler E, Bergmann JF, Dupond JL, Rispal P, Lasseur C, Yeni P, Tranvouez JL, Carbon C. [Gaucher's disease type 1: apropos of 17 cases]. Rev Med Interne 1993;14(10):995. (Fre). Berrebi A, Malnick SD, Vorst EJ, Stein D. High incidence of factor XI deficiency in Gaucher's disease [letter]. Am J Hematol 1992 Jun;40(2):153. Berrebi A, Wishnitzer R, Von-der-Walde U. Gaucher's disease: unexpected diagnosis in three patients over seventy years old. Nouv Rev Fr Hematol 1984;26(3):201-3. Beutler E. Gaucher's disease in an asymptomatic 72-year-old. JAMA 1977 Jun 6;237(23):2529. Beutler E, Saven A. Misuse of marrow examination in the diagnosis of Gaucher disease. Blood 1990 Aug 1;76(3):646-8. Bilchik TR, Heyman S. Skeletal scintigraphy of pseudo- osteomyelitis in Gaucher's disease. Two case reports and a review of the literature. Clin Nucl Med 1992 Apr;17(4):279-82. Bisagni-Faure A, Dupont AM, Chazerain P, Job-Deslandre C, Chevrot A, Menkes CJ. Magnetic resonance imaging assessment of sacroiliac joint involvement in Gaucher's disease. J Rheumatol 1992 Dec;19(12):1984-7. Blom S, Erikson A. Gaucher disease--Norrbottnian type. Neurodevelopmental, neurological, and neurophysiological aspects. Eur J Pediatr 1983 Sep;140(4):316-22. Bonnet B, Gueit I, Chassagne P, Manchon ND, Thomine JM, Bercoff E, Bourreille J. [Pyogenic osteomyelitis in Gaucher's disease]. Rev Med Interne 1992 Jul-Aug;13(4):289-92. (Fre). Brady RO, James SP, Barranger JA. The liver in lipid storage disease: biochemical basis of pathogenesis and clinical features. Prog Liver Dis 1982;7:331-46. Breitfeld V, Lee RE. Pathology of the spleen in hematologic disease. Surg Clin North Am 1975 Apr;55(2):233-51. Burstein Y, Zakuth V, Rechavi G, Spirer Z. Abnormalities of cellular immunity and natural killer cells in Gaucher's disease. J Clin Lab Immunol 1987 Jul;23(3):149-51. Butora M, Kissling R, Frick P. [Bone changes in Gaucher disease]. Z Rheumatol 1989 Nov-Dec;48(6):326-30. (Ger). Carson KF, Williams CA, Rosenthal DL, Bhuta S, Kleerup E, Diaz RP, Sykes E. Bronchoalveolar lavage in a girl with Gaucher's disease. A case report. Acta Cytol 1994 Jul-Aug;38(4):597-600. Castronovo FP Jr, McKusick KA, Doppelt SH, Barton NW. Radiopharmacology of inhaled 133Xe in skeletal sites containing deposits of Gaucher cells. Nucl Med Biol 1993 Jul;20(5):707-14. Cervos-Navarro J, Zimmer C. Light microscopic and ultrastructural study on CNS lesions in infantile Gaucher's disease. Clin Neuropathol 1990 Nov-Dec;9(6):310-3. Ch'en IY, Lynch DA, Shroyer KR, Schwarz MI. Gaucher's disease. An unusual cause of intrathoracic extramedullary hematopoiesis. Chest 1993 Dec;104(6):1923-4. Chambers JP, Peters SP, Glew RH, Lee RE, McCafferty LR, Mercer DW, Wenger DA. Multiple forms of acid phosphatase activity in Gaucher's disease. Metabolism 1978 Jul;27(7):801-14. Choy FY. Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family. J Med Genet 1988 May;25(5):322-5. Chu FC, Rodrigues MM, Cogan DG, Barranger JA. The pathology of pingueculae in Gaucher's disease. Ophthalmic Paediatr Genet 1984 Apr;4(1):7-11. Conradi N, Kyllerman M, Mansson JE, Percy AK, Svennerholm L. Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings. Acta Neuropathol (Berl) 1991;82(2):152-7. Conradi NG, Sourander P, Nilsson O, Svennerholm L, Erikson A. Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies. Acta Neuropathol (Berl) 1984;65(2):99-109. Cremin BJ, Davey H, Goldblatt J. Skeletal complications of type I Gaucher disease: the magnetic resonance features. Clin Radiol 1990 Apr;41(4):244-7. Dahl N, Hillborg PO, Olofsson A. Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies. Hum Genet 1993 Nov;92(5):513-5. Dahl N, Lagerstrom M, Erikson A, Pettersson U. Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. Am J Hum Genet 1990 Aug;47(2):275-8. Dokal IS, Deenmamode M, Lewis SM. Radioisotope studies in monitoring of Gaucher's disease and its treatment. Clin Lab Haematol 1989;11(2):91-6. Dolev E, Many A. Gaucher's disease and primary hyperparathyroidism in the same patient: the impact of a coincidence. Isr J Med Sci 1987 Nov;23(11):1164-5. Domanski H, Dejmek A, Ljung R. Gaucher's disease in an infant diagnosed by fine needle aspiration of the liver and spleen. A case report. Acta Cytol 1992 May-Jun;36(3):410-2. Dreborg S, Erikson A, Hagberg B. Gaucher disease--Norrbottnian type. I. General clinical description. Eur J Pediatr 1980 Mar;133(2):107-18. Elleder M. Foamy transformed Gaucher cells. Zentralbl Pathol 1992;138(1):47-50. Erikson A. Gaucher disease--Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand Suppl 1986;326:1-42. Erikson A, Karlberg J, Skogman AL, Dreborg S. Gaucher disease (type III): intellectual profile. Pediatr Neurol 1987 Mar- Apr;3(2):87-91. Erikson A, Wahlberg I. Gaucher disease--Norrbottnian type. Ocular abnormalities. Acta Ophthalmol (Copenh) 1985 Apr;63(2):221-5. Fink IJ, Pastakia B, Barranger JA. Enlarged phalangeal nutrient foramina in Gaucher disease and beta-thalassemia major. AJR Am J Roentgenol 1984 Sep;143(3):647-9. Finkelstein R, Nachum Z, Reissman P, Reiss ND, Besser M, Trajber I, Melamed Y. Anaerobic osteomyelitis in patients with Gaucher's disease. Clin Infect Dis 1992 Nov;15(5):771-3. Fox H, McCarthy P, Andre-Schwartz J, Shoenfeld Y, Miller KB. Gaucher's disease and chronic lymphocytic leukemia. Possible pathogenetic link between Gaucher's disease and B-cell proliferations? Cancer 1984 Jul 15;54(2):312-4. Gal AE, Pentchev PG, Barranger JA, Dambrosia JM, Brady RO. The distribution of glucocerebroside in the liver of patients with Gaucher's disease. Anal Biochem 1979 May;95(1):127-32. Ginsberg H, Grabowski GA, Gibson JC, Fagerstrom R, Goldblatt J, Gilbert HS, Desnick RJ. Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type I disease. Clin Genet 1984 Aug;26(2):109-16. Glew RH, Christopher AR, Schnure FW, Lee RE. The occurrence of beta-glucocerebrosidase activity in the glucocerebroside-rich deposits of Gaucher's disease. Arch Biochem Biophys 1974 Jan;160(1):162-7. Goldblatt J, Beighton P. Cutaneous manifestations of Gaucher disease. Br J Dermatol 1984 Sep;111(3):331-4. Goldblatt J, Beighton P. Obstetric aspects of Gaucher disease. Br J Obstet Gynaecol 1985 Feb;92(2):145-9. Goldblatt J, Sacks S, Dall D, Beighton P. Total hip arthroplasty in Gaucher's disease. Long-term prognosis. Clin Orthop 1988 Mar;(228):94-8. Goldman AB, Jacobs B. Femoral neck fractures complicating Gaucher disease in children. Skeletal Radiol 1984;12(3):162-8. Gonzalez Rodriguez MJ, Pintado Conde H, Lopez Nieto C, Capdevila Puerta A, Torres Carrete JP. [Retinal involvement in Gaucher's disease]. J Fr Ophtalmol 1992;15(3):185-90. (Fre). Grewal RP, Doppelt SH, Thompson MA, Katz D, Brady RO, Barton NW. Neurologic complications of nonneuronopathic Gaucher's disease. Arch Neurol 1991 Dec;48(12):1271-2. Gross-Tsur V, Har-Even Y, Gutman I, Amir N. Oculomotor apraxia: the presenting sign of Gaucher disease. Pediatr Neurol 1989 Mar- Apr;5(2):128-9. Hainaux B, Christophe C, Hanquinet S, Perlmutter N. Gaucher's disease. Plain radiography, US, CT and MR diagnosis of lungs, bone and liver lesions. Pediatr Radiol 1992;22(1):78-9. Halevi R, Davidovitz M, Mann S, Ben-Bassat M, Stark H, Eisenstein B. Gaucher's disease and mesangiocapillary glomerulonephritis in childhood--a coincidence? Pediatr Nephrol 1993 Aug;7(4):438-40. Hall MB, Brown RW, Baughman RA. Gaucher's disease affecting the mandible. J Oral Maxillofac Surg 1985 Mar;43(3):210-3. Harats D, Raz I, Lebensart P. Ultrasonographic appearance of well-defined splenic space-occupying lesions in Gaucher's disease. Isr J Med Sci 1990 Mar;26(3):168-70. Haratz D, Manny N, Raz I. Autoimmune hemolytic anemia in Gaucher's disease. Klin Wochenschr 1990 Jan 19;68(2):94-5. Henderson JM, Gilinsky NH, Lee EY, Greenwood MF. Gaucher's disease complicated by bleeding esophageal varices and colonic infiltration by Gaucher cells. Am J Gastroenterol 1991 Mar;86(3):346-8. Hermann G, Goldblatt J, Levy RN, Goldsmith SJ, Desnick RJ, Grabowski GA. Gaucher's disease type 1: assessment of bone involvement by CT and scintigraphy. AJR Am J Roentgenol 1986 Nov;147(5):943-8. Hermann G, Shapiro R, Abdelwahab IF, Klein MJ, Pastores G, Grabowski G. Extraosseous extension of Gaucher cell deposits mimicking malignancy. Skeletal Radiol 1994 May;23(4):253-6. Hermann G, Shapiro RS, Abdelwahab IF, Grabowski G. MR imaging in adults with Gaucher disease type I: evaluation of marrow involvement and disease activity. Skeletal Radiol 1993;22(4):247-51. Hermann G, Wagner LD, Gendal ES, Ragland RL, Ulin RI. Spinal cord compression in type I Gaucher disease. Radiology 1989 Jan;170(1 Pt 1):147-8. Hill SC, Damaska BM, Ling A, Patterson K, Di Bisceglie AM, Brady RO, Barton NW. Gaucher disease: abdominal MR imaging findings in 46 patients. Radiology 1992 Aug;184(2):561-6. Hill SC, Reinig JW, Barranger JA, Fink J, Shawker TH. Gaucher disease: sonographic appearance of the spleen. Radiology 1986 Sep;160(3):631-4. Holcomb GW 3d, Greene HL. Fatal hemorrhage caused by disease progression after partial splenectomy for type III Gaucher's disease. J Pediatr Surg 1993 Dec;28(12):1572-4. Horev G, Kornreich L, Hadar H, Katz K. Hemorrhage associated with bone crisis in Gaucher's disease identified by magnetic resonance imaging. Skeletal Radiol 1991;20(7):479-82. Humphries JE, Hess CE. Gaucher's disease and acquired coagulopathy [letter]. Am J Hematol 1994 Apr;45(4):347-8. Israel O, Jerushalmi J, Front D. Scintigraphic findings in Gaucher's disease. J Nucl Med 1986 Oct;27(10):1557-63. Iwanami S, Namba K, Tsukada T, Hosaka T, Tagami M, Kubota A, Terada T. Multiple space-occupying lesions of the spleen in a case of Gaucher's disease. Intern Med 1992 Apr;31(4):557-60. James SP, Stromeyer FW, Stowens DW, Barranger JA. Gaucher disease: hepatic abnormalities in 25 patients. Prog Clin Biol Res 1982;95:131-42. Jimenez Saenz M, Romero Castro R, Carrasco Diaz F, Herrerias Gutierrez JM. [Gaucher's disease type I, anticoagulant factor and pregnancy]. An Med Interna 1991 Jun;8(6):294-5. (Spa). Johnson LA, Hoppel BE, Gerard EL, Miller SP, Doppelt SH, Zirzow GC, Rosenthal DI, Dambrosia JM, Hill SC, Brady RO, et al. Quantitative chemical shift imaging of vertebral bone marrow in patients with Gaucher disease. Radiology 1992 Feb;182(2):451-5. Jones DR, Hoffman J, Downie R, Haqqani M. Massive gastrointestinal haemorrhage associated with ileal lymphoid hyperplasia in Gaucher's disease. Postgrad Med J 1991 May;67(787):479-81. Katz K, Cohen IJ, Ziv N, Grunebaum M, Zaizov R, Yosipovitch Z. Fractures in children who have Gaucher disease. J Bone Joint Surg [Am] 1987 Dec;69(9):1361-70. Katz K, Horev G, Rivlin E, Kornreich L, Cohen IJ, Gruenbaum M, Yosipovitch Z. Upper limb involvement in patients with Gaucher's disease. J Hand Surg [Am] 1993 Sep;18(5):871-5. Katz K, Mechlis-Frish S, Cohen IJ, Horev G, Zaizov R, Lubin E. Bone scans in the diagnosis of bone crisis in patients who have Gaucher disease. J Bone Joint Surg Am 1991 Apr;73(4):513-7. Published erratum appears in J Bone Joint Surg Am 1991 Jun;73(5):791. Katz K, Sabato S, Horev G, Cohen IJ, Yosipovitch Z. Spinal involvement in children and adolescents with Gaucher disease. Spine 1993 Mar 1;18(3):332-5. Kaufman S, Rozenfeld V, Yona R, Varon M. Gaucher's disease associated with chronic lymphocytic leukaemia. Clin Lab Haematol 1986;8(4):321-4. Kaye EM, Ullman MD, Wilson ER, Barranger JA. Type 2 and type 3 Gaucher disease: a morphological and biochemical study. Ann Neurol 1986 Aug;20(2):223-30. Kolodny EH, Ullman MD, Mankin HJ, Raghavan SS, Topol J, Sullivan JL. Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients. Prog Clin Biol Res 1982;95:33-65. Kyllerman M, Conradi N, Mansson JE, Percy AK, Svennerholm L. Rapidly progressive type III Gaucher disease: deterioration following partial splenectomy. Acta Paediatr Scand 1990 Apr;79(4):448-53. Lachiewicz PF. Gaucher's disease. Orthop Clin North Am 1984 Oct;15(4):765-74. Lai YC, Hwu WL, Wang TR, Hsieh KH, Lee CY, Li YW. Crisis in Gaucher disease simulating osteomyelitis: report of one case. Acta Paediatr Sin 1991 Jul-Aug;32(4):244-50. Lanir A, Hadar H, Cohen I, Tal Y, Benmair J, Schreiber R, Clouse ME. Gaucher disease: assessment with MR imaging. Radiology 1986 Oct;161(1):239-44. Le NA, Gibson JC, Rubinstein A, Grabowski GA, Ginsberg HN. Abnormalities in lipoprotein metabolism in Gaucher type 1 disease. Metabolism 1988 Mar;37(3):240-5. Lee RE. The fine structure of the cerebroside occurring in Gaucher's disease. Proc Natl Acad Sci U S A 1968 Oct;61(2):484-9. Lee RE. The pathology of Gaucher disease. Prog Clin Biol Res 1982;95:177-217. Lee RE, Balcerzak SP, Westerman MP. Gaucher's disease. A morphologic study and measurements of iron metabolism. Am J Med 1967 Jun;42(6):891-8. Lee RE, Peters SP, Glew RH. Gaucher's disease: clinical, morphologic, and pathogenetic considerations. Pathol Annu 1977;12(Pt 2):309-39. Liel Y, Hausmann MJ, Mozes M. Case report: serendipitous Gaucher's disease presenting as elevated erythrocyte sedimentation rate due to monoclonal gammopathy. Am J Med Sci 1991 Jun;301(6):393-4. Liel Y, Rudich A, Nagauker-Shriker O, Yermiyahu T, Levy R. Monocyte dysfunction in patients with Gaucher disease: evidence for interference of glucocerebroside with superoxide generation. Blood 1994 May 1;83(9):2646-53. Lipson AH, Rogers M, Berry A. Collodion babies with Gaucher's disease--a further case [letter]. Arch Dis Child 1991 May;66(5):667. Lui K, Commens C, Choong R, Jaworski R. Collodion babies with Gaucher's disease. Arch Dis Child 1988 Jul;63(7):854-6. Lustmann J, Ben-Yehuda D, Somer M, Ulmansky M. Gaucher's disease affecting the mandible and maxilla. Report of a case. Int J Oral Maxillofac Surg 1991 Feb;20(1):7-8. Magalhaes J, Pinto R, Lemos M, Sa Miranda MC, Poenaru L. Age dependency of serum acid phosphatase in controls and Gaucher patients. Enzyme 1984;32(2):95-9. Mankin HJ. Gaucher's disease: a novel treatment and an important breakthrough [editorial]. J Bone Joint Surg Br 1993 Jan;75(1):2-3. Marsh RD, Killeen RB Jr, Agaliotis D. Gaucher's disease associated with chronic lymphocytic leukemia. South Med J 1993 Apr;86(4):473-5. Marti GE, Ryan ET, Papadopoulos NM, Filling-Katz M, Barton N, Fleischer TA, Rick M, Gralnick HR. Polyclonal B-cell lymphocytosis and hypergammaglobulinemia in patients with Gaucher disease. Am J Hematol 1988 Dec;29(4):189-94. Menton M, Frauz M, Harzer K, Stroppel G, Franz HB. [Gaucher disease and pregnancy]. Geburtshilfe Frauenheilkd 1990 May;50(5):410-3. (Ger). Mester SW, Weston MW. Cardiac tamponade in a patient with Gaucher's disease. Clin Cardiol 1992 Oct;15(10):766-7. Nasu M, Fujiwara H, Sono J, Okada Y, Miyamoto S, Nishiuchi S, Tatemichi K, Shomura T. Annulo-aortic ectasia with DeBakey type II dissecting aneurysm in Gaucher's disease. J Cardiovasc Surg (Torino) 1990 Nov-Dec;31(6):809-11. Nishimura R, Omos-Lau N, Ajmone-Marsan C, Barranger JA. Electroencephalographic findings in Gaucher disease. Neurology 1980 Feb;30(2):152-9. Nishimura RN, Barranger JA. Neurologic complications of Gaucher's disease, type 3. Arch Neurol 1980 Feb;37(2):92-3. Ohta H, Komibuchi T, Takeda H, Taniguchi T, Mihara Y, Nakano T, Shintaku M, Fujimoto M, Nasu K, Oki S, et al. Liver scintigraphy in a patient with Gaucher disease. Ann Nucl Med 1993 May;7(2):115-8. Palestro CJ, Finn C. Indium-111-leukocyte imaging in Gaucher's disease. J Nucl Med 1993 May;34(5):818-20. Paonessa KJ, McInerney VK, Minnefor AB. Pseudo-osteomyelitis in Gaucher's disease. Orthop Rev 1989 Aug;18(8):880-8. Parker RI, Grewal RP, McKeown LP, Barton NW. Effect of platelet count on the DDAVP-induced shortening of the bleeding time in thrombocytopenic Gaucher's patients. Am J Pediatr Hematol Oncol 1992 Spring;14(1):39-43. Pastakia B, Brower AC, Chang VH, Barranger JA. Skeletal manifestations of Gaucher's disease. Semin Roentgenol 1986 Oct;21(4):264-74. Patterson MC, Horowitz M, Abel RB, Currie JN, Yu KT, Kaneski C, Higgins JJ, O'Neill RR, Fedio P, Pikus A, et al. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. Neurology 1993 Oct;43(10):1993-7. Paulson JA, Marti GE, Fink JK, Sato N, Schoen M, Karcher DS. Richter's transformation of lymphoma complicating Gaucher's disease. Hematol Pathol 1989;3(2):91-6. Pirruccello S, Barranger JA, Barton NW, Brady RO, Ginns EI. Molecular weight characterization of beta-D-glucocerebrosidase in mononuclear white blood cells in Gaucher's disease. Biochem Med 1984 Feb;31(1):73-9. Rose JS, Grabowski GA, Barnett SH, Desnick RJ. Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease. AJR Am J Roentgenol 1982 Dec;139(6):1202-4. Rosenthal DI, Barton NW, McKusick KA, Rosen BR, Hill SC, Castronovo FP, Brady RO, Doppelt SH, Mankin HJ. Quantitative imaging of Gaucher disease. Radiology 1992 Dec;185(3):841-5. Rosenthal DI, Mayo-Smith W, Goodsitt MM, Doppelt S, Mankin HJ. Bone and bone marrow changes in Gaucher disease: evaluation with quantitative CT. Radiology 1989 Jan;170(1 Pt 1):143-6. Rosenthal DI, Scott JA, Barranger J, Mankin HJ, Saini S, Brady TJ, Osier LK, Doppelt S. Evaluation of Gaucher disease using magnetic resonance imaging. J Bone Joint Surg [Am] 1986 Jul;68(6):802-8. Saraclar M, Atalay S, Kocak N, Ozkutlu S. Gaucher's disease with mitral and aortic involvement: echocardiographic findings. Pediatr Cardiol 1992 Jan;13(1):56-8. Sasaki T, Tsukahara S. New ocular findings in Gaucher's disease: a report of two brothers. Ophthalmologica 1985;191(4):206-9. Schiano TD, Grinberg M, Nawabi I, Grabowski G. Blue nasal secretions: a presentation of Gaucher's disease and concurrent hemosiderosis [letter]. Am J Hematol 1993 Nov;44(3):219-20. Schneider EL, Ellis WG, Brady RO, McCulloch JR, Epstein CJ. Infantile (type II) Gaucher's disease: in utero diagnosis and fetal pathology. J Pediatr 1972 Dec;81(6):1134-9. Schneider EL, Epstein CJ, Kaback MJ, Brandes D. Severe pulmonary involvement in adult Gaucher's disease. Report of three cases and review of the literature. Am J Med 1977 Sep;63(3):475-80. Seinsheimer F 3d, Mankin HJ. Acute bilateral symmetrical pathologic fractures of the lateral tibial plateaus in a patient with Gaucher's disease. Arthritis Rheum 1977 Nov- Dec;20(8):1550-5. Sherer DM, Metlay LA, Sinkin RA, Mongeon C, Lee RE, Woods JR Jr. Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathology findings. Obstet Gynecol 1993 May;81(5 Pt 2):842-4. Shiran A, Brenner B, Laor A, Tatarsky I. Increased risk of cancer in patients with Gaucher disease. Cancer 1993 Jul 1;72(1):219-24. Shoenfeld Y, Berliner S, Pinkhas J, Beutler E. The association of Gaucher's disease and dysproteinemias. Acta Haematol 1980;64(5):241-3. Sidransky E, Ginns EI. Erythropoietin levels in Gaucher patients [letter]. Am J Hematol 1992 Jun;40(2):153-4. Sidransky E, Sherer DM, Ginns EI. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res 1992 Oct;32(4):494-8. Springfield DS, Landried M, Mankin HJ. Gaucher hemorrhagic cyst of bone. A case report. J Bone Joint Surg [Am] 1989 Jan;71(1):141-4. Stowens DW, Chu FC, Cogan DG, Barranger JA. Oculomotor deficits in Gaucher disease. Prog Clin Biol Res 1982;95:143-7. Stowens DW, Teitelbaum SL, Kahn AJ, Barranger JA. Skeletal complications of Gaucher disease. Medicine (Baltimore) 1985 Sep;64(5):310-22. Sun CC, Panny S, Combs J, Gutberlett R. Hydrops fetalis associated with Gaucher disease. Pathol Res Pract 1984 Sep;179(1):101-4. Svennerholm L, Dreborg S, Erikson A, Groth CG, Hillborg PO, Hakansson G, Nilsson O, Tibblin E. Gaucher disease of the Norrbottnian type (type III). Phenotypic manifestations. Prog Clin Biol Res 1982;95:67-94. Svennerholm L, Erikson A, Groth CG, Ringden O, Mansson JE. Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation. Dev Neurosci 1991;13(4-5):345-51. Sziklas JJ, Negrin JA, Rosshirt W, Rosenberg RJ, Spencer RP. Diagnosing osteomyelitis in Gaucher's disease. Observations on two cases. Clin Nucl Med 1991 Jul;16(7):487-9. Theise ND, Ursell PC. Pulmonary hypertension and Gaucher's disease: logical association or mere coincidence? Am J Pediatr Hematol Oncol 1990 Spring;12(1):74-6. Tibblin E, Dreborg S, Erikson A, Hakansson G, Svennerholm L. Hematological findings in the Norrbottnian type of Gaucher disease. Eur J Pediatr 1982 Nov;139(3):187-91. Tobias JD, Atwood R, Lowe S, Holcomb GW 3d. Anesthetic considerations in the child with Gaucher disease. J Clin Anesth 1993 Mar-Apr;5(2):150-3. Uyama E, Takahashi K, Owada M, Okamura R, Naito M, Tsuji S, Kawasaki S, Araki S. Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with -glucocerebrosidase deficiency and a mosaic population of storage cells. Acta Neurol Scand 1992 Oct;86(4):407-20. Van Tiggelen R, Shahabpour M. Gaucher disease. J Belge Radiol 1989 Dec;72(6):538-9. Virgolini L, Silvestri F, Baccarani M. [Update on Gaucher's disease]. Minerva Med 1993 Mar;84(3):81-7. (Ita). Watanabe M, Yanagisawa M, Sato K. Long-standing bony change in Gaucher's disease. Fukushima J Med Sci 1987 Jun;33(1):1-16. Wenger DA. The brain in Gaucher's disease [letter]. Arch Neurol 1984 Mar;41(3):251-2. Wilson ER, Barton NW, Barranger JA. Vascular involvement in type 3 neuronopathic Gaucher's disease. Arch Pathol Lab Med 1985 Jan;109(1):82-4. Yamadori I, Morikawa T, Kobayashi S, Ohmori M. Gaucher's disease type I. Report of a case with prominent deposition of ceroid in splenic endothelial cells and intestinal smooth muscle fibers. Acta Pathol Jpn 1990 Jun;40(6):425-30. Yates P, Morse C, Standen GR. Gaucher's disease and acquired coagulopathy. Clin Lab Haematol 1992;14(4):331-4. Yosipovitch Z, Katz K. Bone crisis in Gaucher disease--an update. Isr J Med Sci 1990 Oct;26(10):593-5. Zevin S, Abrahamov A, Hadas-Halpern I, Kannai R, Levy-Lahad E, Horowitz M, Zimran A. Adult-type Gaucher disease in children: genetics, clinical features and enzyme replacement therapy. Q J Med 1993 Sep;86(9):565-73. Zimran A, Abrahamov A, Aker M, Matzner Y. Correction of neutrophil chemotaxis defect in patients with Gaucher disease by low-dose enzyme replacement therapy. Am J Hematol 1993 May;43(1):69-71. Zimran A, Elstein D, Abrahamov A, Dale GL, Aker M, Matzner Y. Significance of abnormal neutrophil chemotaxis in Gaucher's disease [letter]. Blood 1994 Oct 1;84(7):2374-5. Zlotogora J, Sagi M, Zeigler M, Bach G. Gaucher disease type I and pregnancy. Am J Med Genet 1989 Apr;32(4):475-7. Zlotogora J, Zaizov R, Klibansky C, Matoth Y, Bach G, Cohen T. Genetic heterogeneity in Gaucher disease. J Med Genet 1986 Aug;23(4):319-22. Enzyme Replacement Aggio MC, Fernandez V, Marcilese M. [Enzyme replacement therapy in Gaucher disease Type 1]. Medicina (B Aires) 1994;54(2):140-4. (Spa). Ajnwojner S. [Successful treatment of Gaucher's disease with ceredase]. Therapiewoche 1991;41(26):1707-10. (Ger). Alglucerace cost controversy continues. P T 1992;17(12):1812. Alglucerase for Gaucher's disease. Med Lett Drugs Ther 1991 Aug 23;33(851):82. Barranger JA. Gaucher's disease: new hope for treatment [letter]. Lancet 1993 Nov 27;342(8883):1372. Comment on: Lancet 1993 Sep 18;342(8873):694-5. Barton NW, Brady RO, Dambrosia JM. Treatment of Gaucher's disease [letter]. N Engl J Med 1993 May 27;328(21):1564-5; discussion 1567-8. Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, et al. Replacement therapy for inherited enzyme deficiency--macrophage- targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991 May 23;324(21):1464-70. Comment in: N Engl J Med 1993 May 27;328(21):1564; discussion 1567-8. Barton NW, Brady RO, Dambrosia JM, Doppelt SH, Hill SC, Holder CA, Mankin HJ, Murray GJ, Zirzow GC, Parker RI. Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease. J Pediatr 1992 Feb;120(2 Pt 1):277-80. Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci U S A 1990 Mar;87(5):1913-6. Bartsch O. [Alglucerase therapy in Gaucher's disease]. Pharm Ztg 1993;138(10):87. (Ger). Beck M. [Enzyme therapy of Gaucher's disease]. Dtsch Med Wochenschr 1993 Jun 25;118(25):964-5. (Ger). Beck M, Valadares ER, Lotz J. Gaucher's disease: therapy by intravenous infusions of modified glucocerebrosidase. Clin Investig 1993 Jan;71(1):78. Belmatoug N, Azorin M, Huten D, de Villemeur TB, Carbon C. [Course of a case of Gaucher's disease type 1 treated over a year with glucocerebrosidase (Ceredase)]. Rev Med Interne 1993;14(10):996. (Fre). Berthold F, Sieverts H, Benz-Bohm G, Landwehr P, Harzer K. [Response criteria for enzyme substitution in Gaucher disease]. Monatsschr Kinderheilkd 1992 Oct;140(10):740-4. (Ger). Beutler E. Economic malpractice in the treatment of Gaucher's disease [editorial]. Am J Med 1994 Jul;97(1):1-2. Comment on: Am J Med 1994 Jul;97(1):3-13. Beutler E, Dale GL, Guinto DE, Kuhl W. Enzyme replacement therapy in Gaucher's disease: preliminary clinical trial of a new enzyme preparation. Proc Natl Acad Sci U S A 1977 Oct;74(10):4620-3. Beutler E, Dale GL, Kuhl W. Replacement therapy in Gaucher disease. Birth Defects 1980;16(1):369-81. Beutler E, Kay A, Saven A, Garver P, Thurston D, Dawson A, Rosenbloom B. Enzyme replacement therapy for Gaucher disease. Blood 1991 Sep 1;78(5):1183-9. Bischoff A. [Enzyme substitution in Gaucher's disease]. Pharm Ztg 1992;137(20):28. (Ger). Brady RO. Control and therapy of lipid storage diseases: present status and future strategies. Ala J Med Sci 1982 Apr;19(2):161-4. Brady RO. Genetic errors and enzyme replacement strategies. Res Publ Assoc Res Nerv Ment Dis 1983;60:181-93. Brady RO, Barranger JA, Furbish FS, Stowens DW, Ginns EI. Prospects for enzyme replacement therapy in Gaucher disease. Prog Clin Biol Res 1982;95:669-80. Brady RO, Barranger JA, Gal AE, Pentchev PG, Furbish FS. Status of enzyme replacement therapy for Gaucher disease. Birth Defects 1980;16(1):361-8. Brady RO, Barton NW. Enzyme replacement therapy for Gaucher disease: critical investigations beyond demonstration of clinical efficacy. Biochem Med Metab Biol 1994 Jun;52(1):1-9. Brady RO, Murray GJ, Barton NW. Modifying exogenous glucocerebrosidase for effective replacement therapy in Gaucher disease. J Inherit Metab Dis 1994;17(4):510-19. Brady RO, Pentchev PG, Gal AE, Hibbert SR, Dekaban AS. Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease. N Engl J Med 1974 Nov 7;291(19):989-93. Britton DE, Leinikki PO, Barranger JA, Brady RO. Gaucher's disease: lack of antibody response to intravenous glucocerebrosidase. Life Sci 1978 Dec 18;23(25):2517-9. Ceredase inj. -- Genzyme. Pharmindex 1991;33(10):1-2. Cohen Y, Elstein D, Abrahamov A, Hirsch H, Zimran A. HCG contamination of alglucerase: clinical implications in low-dose regimen. Am J Hematol 1994 Nov;47(3):235-6. Cox TM. Therapeutic advances in Gaucher's disease: a model for the treatment of lysosomal storage diseases. Forum Trends Exp Clin Med 1994;4(2):144-57. Dale GL, Beutler E. Enzyme replacement therapy in Gaucher's disease: a rapid, high-yield method for purification of glucocerebrosidase. Proc Natl Acad Sci U S A 1976 Dec;73(12):4672-4. Dale GL, Beutler E, Fournier P, Blanc P, Liautaud J. Large scale purification of glucocerebrosidase from human placentas. Birth Defects 1980;16(1):33-41. Das PK, Murray GJ, Zirzow GC, Brady RO, Barranger JA. Lectin- specific targeting of beta-glucocerebrosidase to different liver cells via glycosylated liposomes. Biochem Med 1985 Feb;33(1):124-31. Doebber TW, Wu MS, Bugianesi RL, Ponpipom MM, Furbish FS, Barranger JA, Brady RO, Shen TY. Enhanced macrophage uptake of synthetically glycosylated human placental beta- glucocerebrosidase. J Biol Chem 1982 Mar 10;257(5):2193-9. Drug approved for Gaucher's disease [news]. Am Fam Phys 1991 Jun;43(6):2269. Enzyme replacement therapy approved for Gaucher's disease. Clin Pharm 1991;10(7):496, 498. Enzyme-replacement therapy for Gaucher's disease [letter]. N Engl J Med 1991 Dec 19;325(25):1809-11. Erikson A, Johansson K, Mansson JE, Svennerholm L. Enzyme replacement therapy of infantile Gaucher disease. Neuropediatrics 1993 Aug;24(4):237-8. Fallet S, Grace ME, Sibille A, Mendelson DS, Shapiro RS, Hermann G, Grabowski GA. Enzyme augmentation in moderate to life- threatening Gaucher disease. Pediatr Res 1992 May;31(5):496-502. Figueroa ML, Rosenbloom BE, Kay AC, Garver P, Thurston DW, Koziol JA, Gelbart T, Beutler E. A less costly regimen of alglucerase to treat Gaucher's disease. N Engl J Med 1992 Dec 3;327(23):1632-6. Comment in: N Engl J Med 1992 Dec 3;327(23):1676-8 and N Engl J Med 1993 May 27;328(21):1564; discussion 1567-8. Furbish FS, Blair HE, Shiloach J, Pentchev PG, Brady RO. Enzyme replacement therapy in Gaucher's disease: large-scale purification of glucocerebrosidase suitable for human administration. Proc Natl Acad Sci U S A 1977 Aug;74(8):3560-3. Furbish FS, Blair HE, Shiloach J, Pentchev PG, Brady RO. Glucocerebrosidase from human placenta. Methods Enzymol 1978;50:529-32. Furbish FS, Krett NL, Barranger JA, Brady RO. Fucose plays a role in the clearance and uptake of glucocerebrosidase by rat liver cells. Biochem Biophys Res Commun 1980 Aug 29;95(4):1768-74. Furbish FS, Steer CJ, Barranger JA, Jones EA, Brady RO. The uptake of native and desialylated glucocerebrosidase by rat hepatocytes and Kupffer cells. Biochem Biophys Res Commun 1978 Apr 14;81(3):1047-53. Furbish FS, Steer CJ, Krett NL, Barranger JA. Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation. Biochim Biophys Acta 1981 Apr 3;673(4):425-34. Garber AM. Federal and private roles in the development and provision of alglucerase therapy for Gaucher disease. Washington: Office of Technology Assessment; 1992. 34 p. Garber AM. No price too high? [editorial]. N Engl J Med 1992 Dec 3;327(23):1676-8. Comment on: N Engl J Med 1992 Dec 3;327(23):1632-6. [Gaucher's disease, a congenital lipometabolic disorder. Enzyme modification opens new perspectives]. Dtsch Apoth Ztg 1993;133(27):46-7. (Ger). Giraldo P, Perez-Calvo J, Cortes T, Civeira F, Rubio-Felix D. [Type I Gaucher's disease: clinical, evolutive and therapeutic features in 8 cases]. Sangre (Barc) 1994 Feb;39(1):3-7. (Spa). Comment in: Sangre (Barc) 1994 Feb;39(1):1-2. Goldman DP, Clarke AE, Garber AM. Creating the costliest orphan. The Orphan Drug Act in the development of Ceredase. Int J Technol Assess Health Care 1992 Fall;8(4):583-97. Grabowski GA. Treatment of Gaucher's disease [letter]. N Engl J Med 1993 May 27;328(21):1565. Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Bannerjee TK, McKee MA, Parker C, Schiffmann R, Hill SC, Brady RO. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 1995 Jan 1;122(1):33-9. High cost of aglucerase questioned [news]. Drug Therapy 1992;22(9):77, 98. Hill SC, Parker CC, Brady RO, Barton NW. MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy. J Comput Assist Tomogr 1993 Sep-Oct;17(5):806-9. Hollak CE, Aerts JM, van Oers MH. Treatment of Gaucher's disease [letter]. N Engl J Med 1993 May 27;328(21):1565-6; discussion 1567. Huarte Lacunza R, Marco Matoses R, Vazquez Mora JR, Idoipe Tomas A, Mendaza Beltran M. [Aglucerase and Gaucher's disease]. Farm Clin 1994;11(1):38-49. (Spa). Kay AC, Saven A, Garver P, Thurston DW, Rosenbloom BF, Beutler E. Enzyme replacement therapy in type I Gaucher disease. Trans Assoc Am Physicians 1991;104:258-64. Lexchin J. Treatment of Gaucher's disease [letter]. N Engl J Med 1993 May 27;328(21):1566-7; discussion 1567-8. Martin BM, Tsuji S, LaMarca ME, Maysak K, Eliason W, Ginns EI. Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector. DNA 1988 Mar;7(2):99-106. Moscicki RA, Taunton-Rigby A. Treatment of Gaucher's disease [letter]. N Engl J Med 1993 May 27;328(21):1564; discussion 1567-8. Comment on: N Engl J Med 1991 May 23;324(21):1464-70 and N Engl J Med 1992 Dec 3;327(23):1632-6. Moscicki RA, van Heek J. Ceredase dosing concerns for Gaucher's disease [letter]. Am J Med 1994 Oct;97(4):402-3. Murray GJ. Lectin-specific targeting of lysosomal enzymes to reticuloendothelial cells. Methods Enzymol 1987;149:25-42. Murray GJ, Doebber TW, Shen TY, Wu MS, Ponpipom MM, Bugianesi RL, Brady RO, Barranger JA. Targeting of synthetically glycosylated human placental glucocerebrosidase. Biochem Med 1985 Oct;34(2):241-6. Murray GJ, Howard KD, Richards SM, Barton NW, Brady RO. Gaucher's disease: lack of antibody response in 12 patients following repeated intravenous infusions of mannose terminal glucocerebrosidase. J Immunol Methods 1991 Mar 1;137(1):113-20. Parker RI, Barton NW, Read EJ, Brady RO. Hematologic improvement in a patient with Gaucher disease on long-term enzyme replacement therapy: evidence for decreased splenic sequestration and improved red blood cell survival. Am J Hematol 1991 Oct;38(2):130-7. Pastores GM, Sibille AR, Grabowski GA. Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood 1993 Jul 15;82(2):408-16. Pelini M, Boice D, O'Neil K, LaRocque J. Glucocerebrosidase treatment of type I Gaucher disease with severe pulmonary involvement. Ann Intern Med 1994 Aug 1;121(3):196-7. Pentchev PG, Barranger JA, Gal AE, Furbish FS, Brady RO. Incorporation of exogenous enzymes into lysosomes. A theoretical and practical means for correcting lysosomal blockage. In: Walborg EF, editor. Glycoproteins and glycolipids in disease processes. Washington: American Chemical Society; 1978. p. 150- 9. Report of the National Commission on Orphan Diseases. [Washington]: Dept. of Health and Human Services (US), Public Health Service, Office of the Assistant Secretary for Health; 1989. 106 p. Richards SM, Olson TA, McPherson JM. Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase. Blood 1993 Sep 1;82(5):1402-9. Robinson CP. Alglucerase. Drugs Today 1992;28(7):455-61. Sato Y, Beutler E. Binding, internalization, and degradation of mannose-terminated glucocerebrosidase by macrophages. J Clin Invest 1993 May;91(5):1909-17. Sidransky E, Dietrich KM, Ginns EI. False-positive pregnancy tests in Gaucher's disease [letter]. Lancet 1994 Oct 22;344(8930):1156. Sidransky E, Ginns EI, Westman JA, Ehmann WC. Pathologic fractures may develop in Gaucher patients receiving enzyme replacement therapy [letter]. Am J Hematol 1994 Nov;47(3):247-9. Sidransky E, Martin B, Ginns EI. Treatment of Gaucher's disease [letter]. N Engl J Med 1993 May 27;328(21):1566; discussion 1567. Syrop J. The world's costliest drug: conflict overshadows cure. Drug Therapy 1993;23(9):47-9, 52. Thoene JG. Current status of orphan disease drug development. Curr Opin Pediatr 1994 Apr;6(2):209-12. Verderese CL, Graham OC, Holder-McShane CA, Harnett NE, Barton NW. Gaucher's disease: a pilot study of the symptomatic responses to enzyme replacement therapy. J Neurosci Nurs 1993 Oct;25(5):296-301. Whittington R, Goa KL. Alglucerase. A review of its therapeutic use in Gaucher's disease. Drugs 1992 Jul;44(1):72-93. Zimran A, Abrahamov A. [Enzyme replacement therapy for Gaucher's disease]. Harefuah 1994 Jun 15;126(12):725-9. (Heb). Zimran A, Elstein D, Kannai R, Zevin S, Hadas-Halpern I, Levy- Lahad E, Cohen Y, Horowitz M, Abrahamov A. Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment. Am J Med 1994 Jul;97(1):3-13. Comment in: Am J Med 1994 Jul;97(1):1-2. Zimran A, Hadas-Halpern I, Zevin S, Levy-Lahad E, Abrahamov A. Low-dose high-frequency enzyme replacement therapy for very young children with severe Gaucher disease. Br J Haematol 1993 Dec;85(4):783-6. Zimran A, Hollak CE, Abrahamov A, van Oers MH, Kelly M, Beutler E. Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients. Blood 1993 Aug 15;82(4):1107-9. Gene Therapy Aran JM, Gottesman MM, Pastan I. Drug-selected coexpression of human glucocerebrosidase and P-glycoprotein using a bicistronic vector. Proc Natl Acad Sci U S A 1994 Apr 12;91(8):3176-80. Bansal V, Mowery-Rushton P, Lucht L, Li J, Bahnson A, Watkins SC, Barranger JA. Transduction, expression, and secretion of human glucocerebrosidase by murine myoblasts. Ann N Y Acad Sci 1994 May 31;716:307-19; discussion 319-20. Choudary PV, Barranger JA, Tsuji S, Mayor J, LaMarca ME, Cepko CL, Mulligan RC, Ginns EI. Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts. Mol Biol Med 1986 Jun;3(3):293-9. Choudary PV, Tsuji S, Martin BM, Guild BC, Mulligan RC, Murray GJ, Barranger JA, Ginns EI. The molecular biology of Gaucher disease and the potential for gene therapy. Cold Spring Harb Symp Quant Biol 1986;51(Pt 2):1047-52. Correll PH, Colilla S, Dave HP, Karlsson S. High levels of human glucocerebrosidase activity in macrophages of long-term reconstituted mice after retroviral infection of hematopoietic stem cells. Blood 1992 Jul 15;80(2):331-6. Correll PH, Colilla S, Karlsson S. Retroviral vector design for long-term expression in murine hematopoietic cells in vivo. Blood 1994 Sep 15;84(6):1812-22. Correll PH, Fink JK, Brady RO, Perry LK, Karlsson S. Production of human glucocerebrosidase in mice after retroviral gene transfer into multipotential hematopoietic progenitor cells. Proc Natl Acad Sci U S A 1989 Nov;86(22):8912-6. Correll PH, Kew Y, Perry LK, Brady RO, Fink JK, Karlsson S. Expression of human glucocerebrosidase in long-term reconstituted mice following retroviral-mediated gene transfer into hematopoietic stem cells. Hum Gene Ther 1990 Fall;1(3):277-87. Fink JK, Correll PH, Perry LK, Brady RO, Karlsson S. Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease. Proc Natl Acad Sci U S A 1990 Mar;87(6):2334-8. Freas DL, Correll PH, Dougherty SF, Karlsson S, Pluznik DH. Evaluation of expression of transferred genes in differentiating myeloid cells: expression of human glucocerebrosidase in murine macrophages. Hum Gene Ther 1993 Jun;4(3):2 83-90. Freas-Lutz DL, Correll PH, Dougherty SF, Xu L, Pluznik DH, Karlsson S. Expression of human glucocerebrosidase in murine macrophages: identification of efficient retroviral vectors. Exp Hematol 1994 Aug;22(9):857-65. Karlsson S, Correll PH, Xu L. Gene transfer and bone marrow transplantation with special reference to Gaucher's disease. Bone Marrow Transplant 1993;11 Suppl 1:124-7. Kohn DB, Nolta JA, Weinthal J, Bahner I, Yu XJ, Lilley J, Crooks GM. Toward gene therapy for Gaucher disease. Hum Gene Ther 1991 Summer;2(2):101-5. Krall WJ, Challita PM, Perlmutter LS, Skelton DC, Kohn DB. Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation. Blood 1994 May 1;83(9):2737-48. Nolta JA, Hanley MB, Kohn DB. Sustained human hematopoiesis in immunodeficient mice by cotransplantation of marrow stroma expressing human interleukin-3: analysis of gene transduction of long-lived progenitors. Blood 1994 May 15;83(10):3041-51. Nolta JA, Sender LS, Barranger JA, Kohn DB. Expression of human glucocerebrosidase in murine long-term bone marrow cultures after retroviral vector-mediated transfer. Blood 1990 Feb 1;75(3):787-97. Ohashi T, Boggs S, Robbins P, Bahnson A, Patrene K, Wei FS, Wei JF, Li J, Lucht L, Fei Y, et al. Efficient transfer and sustained high expression of the human glucocerebrosidase gene in mice and their functional macrophages following transplantation of bone marrow transduced by a retroviral vector. Proc Natl Acad Sci U S A 1992 Dec 1;89(23):11332-6. Robbins PD, Tahara H, Mueller G, Hung G, Bahnson A, Zitvogel L, Galea-Lauri J, Ohashi T, Patrene K, Boggs SS, et al. Retroviral vectors for use in human gene therapy for cancer, Gaucher disease, and arthritis. Ann N Y Acad Sci 1994 May 31;716:72-88; discussion 88-9. Sorge J, Kuhl W, West C, Beutler E. Complete correction of the enzymatic defect of type I Gaucher disease fibroblasts by retroviral-mediated gene transfer. Proc Natl Acad Sci U S A 1987 Feb;84(4):906-9. Sorge J, Kuhl W, West C, Beutler E. Gaucher disease: retrovirus-mediated correction of the enzymatic defect in cultured cells. Cold Spring Harb Symp Quant Biol 1986;51(Pt 2):1041-6. Weinthal J, Nolta JA, Yu XJ, Lilley J, Uribe L, Kohn DB. Expression of human glucocerebrosidase following retroviral vector-mediated transduction of murine hematopoietic stem cells. Bone Marrow Transplant 1991 Nov;8(5):403-12. Xu L, Stahl SK, Dave HP, Schiffmann R, Correll PH, Kessler S, Karlsson S. Correction of the enzyme deficiency in hematopoietic cells of Gaucher patients using a clinically acceptable retroviral supernatant transduction protocol. Exp Hematol 1994 Feb;22(2):223-30. Other Therapies Bar-Maor JA. Partial splenectomy in Gaucher's disease: follow- up report. J Pediatr Surg 1993 May;28(5):686-8. Bembi B, Agosti E, Boehm P, Nassimbeni G, Zanatta M, Vidoni L. Aminohydroxypropylidene-biphosphonate in the treatment of bone lesions in a case of Gaucher's disease type 3. Acta Paediatr 1994 Jan;83(1):122-4. Carlson DE, Busuttil RW, Giudici TA, Barranger JA. Orthotopic liver transplantation in the treatment of complications of type 1 Gaucher disease. Transplantation 1990 Jun;49(6):1192-4. Chan KW, Wong LT, Applegarth D, Davidson AG. Bone marrow transplantation in Gaucher's disease: effect of mixed chimeric state. Bone Marrow Transplant 1994;14(2):327-30. Cohen IJ, Katz K, Freud E, Zer M, Zaizov R. Long-term follow-up of partial splenectomy in Gaucher's disease. Am J Surg 1992 Oct;164(4):345-7. Desnick RJ, Grabowski GA. Advances in the treatment of inherited metabolic diseases. Adv Hum Genet 1981;11:281-369. Desnick SJ, Desnick RJ, Brady RO, Pentchev PG, Simmons RL, Najarian JS, Swaiman K, Sharp HL, Krivit W. Renal transplantation in Type II Gaucher disease. Birth Defects 1973 Mar;9(2):109-19. DuCerf C, Bancel B, Caillon P, Adham M, Guibaud P, Spay G, Pouyet M. Orthotopic liver transplantation for type 1 Gaucher's disease. Transplantation 1992 May;53(5):1141-3. Erikson A, Groth CG, Mansson JE, Percy A, Ringden O, Svennerholm L. Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type. Acta Paediatr Scand 1990 Jun-Jul;79(6-7):680-5. Fleshner PR, Astion DJ, Ludman MD, Aufses AH Jr, Grabowski GA, Dolgin SE. Gaucher disease: fate of the splenic remnant after partial splenectomy--a case of rapid enlargement. J Pediatr Surg 1989 Jun;24(6):610-2. Fleshner PR, Aufses AH Jr, Grabowski GA, Elias R. A 27-year experience with splenectomy for Gaucher's disease. Am J Surg 1991 Jan;161(1):69-75. Guzzetta PC, Connors RH, Fink J, Barranger JA. Operative technique and results of subtotal splenectomy for Gaucher disease. Surg Gynecol Obstet 1987 Apr;164(4):359-62. Guzzetta PC, Ruley EJ, Merrick HF, Verderese C, Barton N. Elective subtotal splenectomy. Indications and results in 33 patients. Ann Surg 1990 Jan;211(1):34-42. Harinck HI, Bijvoet OL, van der Meer JW, Jones B, Onvlee GJ. Regression of bone lesions in Gaucher's disease during treatment with aminohydroxypropylidene bisphosphonate [letter]. Lancet 1984 Sep 1;2(8401):513. Hobbs JR, Jones KH, Shaw PJ, Lindsay I, Hancock M. Beneficial effect of pre-transplant splenectomy on displacement bone marrow transplantation for Gaucher's syndrome. Lancet 1987 May 16;1(8542):1111-5. Karatsis P, Rogers K. Subtotal splenectomy in Gaucher's disease: towards a definition of critical splenic mass [letter]. Br J Surg 1993 Mar;80(3):399. Comment on: Br J Surg 1992 Aug;79(8):742-4. Mistry PK, Davies S, Corfield A, Dixon AK, Cox TM. Successful treatment of bone marrow failure in Gaucher's disease with low- dose modified glucocerebrosidase. Q J Med 1992 Jul;83(303):541-6. Morgenstern L, Verham R, Weinstein I, Phillips EH. Subtotal splenectomy for Gaucher's disease: a follow-up study. Am Surg 1993 Dec;59(12):860-5. Nolta JA, Yu XJ, Bahner I, Kohn DB. Retroviral-mediated transfer of the human glucocerebrosidase gene into cultured Gaucher bone marrow. J Clin Invest 1992 Aug;90(2):342-8. Published erratum appears in J Clin Invest 1992 Oct;90(4):following 1634]. Ostlere L, Warner T, Meunier PJ, Hulme P, Hesp R, Watts RW, Reeve J. Treatment of type 1 Gaucher's disease affecting bone with aminohydroxypropylidene bisphosphonate (pamidronate). Q J Med 1991 Jun;79(290):503-15. Platt FM, Neises GR, Karlsson GB, Dwek RA, Butters TD. N- butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing. J Biol Chem 1994 Oct 28;269(43):27108-14. Rappeport JM, Barranger JA, Ginns EI. Bone marrow transplantation in Gaucher disease. Birth Defects 1986;22(1):101-9. Rappeport JM, Ginns EI. Bone-marrow transplantation in severe Gaucher's disease. N Engl J Med 1984 Jul 12;311(2):84-8. Ringden O, Groth CG, Erikson A, Backman L, Granqvist S, Mansson JE, Svennerholm L. Long-term follow-up of the first successful bone marrow transplantation in Gaucher disease. Transplantation 1988 Jul;46(1):66-70. Rodgers BM, Tribble C, Joob A. Partial splenectomy for Gaucher's disease. Ann Surg 1987 Jun;205(6):693-9. Rodgers GP, Lessin LS. Recombinant erythropoietin improves the anemia associated with Gaucher's disease [letter]. Blood 1989 Jun;73(8):2228-9. Rubin M, Yampolski I, Lambrozo R, Zaizov R, Dintsman M. Partial splenectomy in Gaucher's disease. J Pediatr Surg 1986 Feb;21(2):125-8. Rubin M, Ziv Y, Bilik R, Yampolski I, Feigenberg Z, Dintsman M. Preservation of the spleen in children. Isr J Med Sci 1985 Nov;21(11):922-3. Samuel R, Katz K, Papapoulos SE, Yosipovitch Z, Zaizov R, Liberman UA. Aminohydroxy propylidene bisphosphonate (APD) treatment improves the clinical skeletal manifestations of Gaucher's disease. Pediatrics 1994 Sep;94(3):385-9. Sidransky E, Ginns EI, Frenkel E, Benear JB 2d. Anemic Gaucher patients with elevated endogenous erythropoietin levels may not respond to recombinant erythropoietin therapy [letter]. Blood 1992 Jan 15;79(2):532-3. Smanik EJ, Tavill AS, Jacobs GH, Schafer IA, Farquhar L, Weber FL Jr, Mayes JT, Schulak JA, Petrelli M, Zirzow GC, et al. Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease. Hepatology 1993 Jan;17(1):42-9. Starer F, Sargent JD, Hobbs JR. Regression of the radiological changes of Gaucher's disease following bone marrow transplantation. Br J Radiol 1987 Dec;60(720):1189-95. Starzl TE, Demetris AJ, Trucco M, Ricordi C, Ildstad S, Terasaki PI, Murase N, Kendall RS, Kocova M, Rudert WA, et al. Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. N Engl J Med 1993 Mar 18;328(11):745-9. Comment in: N Engl J Med 1993 Mar 18;328(11):801-2. Sundaram KS, Lev M. The long-term administration of L- cycloserine to mice: specific reduction of cerebroside level. Neurochem Res 1989 Mar;14(3):245-8. Thanopoulos BD, Frimas CA, Mantagos SP, Beratis NG. Gaucher disease: treatment of hypersplenism with splenic embolization. Acta Paediatr Scand 1987 Nov;76(6):1003-7. Tsai P, Lipton JM, Sahdev I, Najfeld V, Rankin LR, Slyper AH, Ludman M, Grabowski GA. Allogenic bone marrow transplantation in severe Gaucher disease. Pediatr Res 1992 May;31(5):503-7. SCREENING FOR GENETIC DISEASE Abbing HD. Genetic predictive testing and private insurances. Health Policy 1991 Aug;18(3):197-206. Aldhous P. Genetic screening. Closing a loophole in discrimination rules [news]. Nature 1991 Jun 27;351(6329):684. Alper JS, Natowicz MR. Genetic discrimination and the public entities and public accommodations titles of the Americans with Disabilities Act. Am J Hum Genet 1993 Jul;53(1):26-32. Alper JS, Natowicz MR. Genetic testing and insurance [editorial]. BMJ 1993 Dec 11;307(6918):1506-7. Comment in: BMJ 1994 Feb 12;308(6926):472 and BMJ 1994 Feb 12:308(6926):472-3. Andrews LB. Legal aspects of genetic information. Yale J Biol Med 1991 Jan-Feb;64(1):29-40. Andrews LB, Fullerton JE, Holtzman NA, Motulsky AG. Assessing genetic risks: implications for health and social policy. Report. Washington: National Academy Press; 1994 Apr. 350 p. Andrews LB, Jaeger AS. Confidentiality of genetic information in the workplace. Am J Law Med 1991;17(1-2):75-108. Bansal V, Mulvihill JJ. Practical screening for genetic disorders. Hosp Med 1993 Dec;29(12):54, 56-8, 63-4 passim. Biesecker L, Bowles-Biesecker B, Collins F, Kaback M, Wilfond B. General population screening for cystic fibrosis is premature [letter]. Am J Hum Genet 1992 Feb;50(2):438-9. Billings P, Beckwith J. Genetic testing in the workplace: a view from the USA. Trends Genet 1992 Jun;8(6):198-202. Billings PR, Kohn MA, de Cuevas M, Beckwith J, Alper JS, Natowicz MR. Discrimination as a consequence of genetic testing. Am J Hum Genet 1992 Mar;50(3):476-82. Comment in: Am J Hum Genet 1992 Oct;51(4):899-901; discussion 903-5 and Am J Hum Genet 1992 Oct;51(4):901-5. Blitzer MG, McDowell GA. Tay-Sachs disease as a model for screening inborn errors. Clin Lab Med 1992 Sep;12(3):463-80. Botkin JR. Ethical issues in human genetic technology. Pediatrician 1990;17(2):100-7. Broide E, Zeigler M, Eckstein J, Bach G. Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel. Am J Med Genet 1993 Aug 15;47(2):213-5. Brown J. Prenatal screening in Jewish law. J Med Ethics 1990 Jun;16(2):75-80. Caskey CT. Presymptomatic diagnosis: a first step toward genetic health care. Science 1993 Oct 1;262(5130):48-9. Comment in: Science 1993 Oct 1;262(5130):11. Fost N. Ethical implications of screening asymptomatic individuals. FASEB J 1992 Jul;6(10):2813-7. Garber AP, Platt LD, Wang SJ, Jam K, Carlson DE, Rotter JI. Determinants of utilization of Tay-Sachs screening. Obstet Gynecol 1993 Sep;82(3):460-3. Gostin L. Genetic discrimination: the use of genetically based diagnostic and prognostic tests by employers and insurers. Am J Law Med 1991;17(1-2):109-44. Holtzman NA. The diffusion of new genetic tests for predicting disease. FASEB J 1992 Jul;6(10):2806-12. Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA 1993 Nov 17;270(19):2307-15. Kaback MM. The control of genetic disease by carrier screening and antenatal diagnosis: social, ethical, and medicolegal issues. Birth Defects 1982;18(7):243-54. Marteau TM. Psychological implications of genetic screening. Birth Defects 1992;28(1):185-90. Natowicz MR, Alper JK, Alper JS. Genetic conditions and the scope of the Americans with Disabilities Act [letter]. Am J Hum Genet 1993 Aug;53(2):534-5. Comment on: Am J Hum Genet 1993 Mar;52(3):565-77. Natowicz MR, Alper JK, Alper JS. Genetic discrimination and the law. Am J Hum Genet 1992 Mar;50(3):465-75. Comment in: Am J Hum Genet 1992 Oct;51(4):897-9 and Am J Hum Genet 1992 Oct;51(4):901-5. Natowicz MR, Alper JS. Genetic screening: triumphs, problems, and controversies. J Public Health Policy 1991 Winter;12(4):475-91. Petersen GM, Rotter JI, Cantor RM, Field LL, Greenwald S, Lim JS, Roy C, Schoenfeld V, Lowden JA, Kaback MM. The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin. Am J Hum Genet 1983 Nov;35(6):1258-69. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research (US). Screening and counseling for genetic conditions: a report on the ethical, social, and legal implications of genetic screening, counseling, and education programs. Washington: The Commission; 1983. 122 p.