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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



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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



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$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.

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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.

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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
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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
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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.

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