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
GRATEFUL MED
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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
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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
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Beutler E, Kuhl W. Glucocerebrosidase processing in normal
fibroblasts and in fibroblasts from patients with type I, type
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Oct;83(19):7472-4.
Beutler E, Kuhl W, Sorge J. Cross-reacting material in Gaucher
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Beutler E, Kuhl W, Trinidad F, Teplitz R, Nadler H. Beta-
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Beutler E, Kuhl W, Trinidad F, Teplitz R, Nadler H. Detection
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Bieberich E, Legler G. Intracellular activity of lysosomal
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Bradova V, Smid F, Ulrich-Bott B, Roggendorf W, Paton BC, Harzer
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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
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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
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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
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Chiao YB, Glew RH, Diven WF, Lee RE. Comparison of various
beta-glucosidase assays used to diagnose Gaucher's disease. Clin
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Choy FY. Gaucher disease: comparative study of acid phosphatase
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Choy FY. Purification of lysosomal membrane-bound
glucocerebrosidase from human cultured fibroblasts using high-
performance liquid chromatography. Anal Biochem 1989
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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
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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
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Christomanou H, Chabas A, Pampols T, Guardiola A. Activator
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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
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Daniels LB, Glew RH, Diven WF, Lee RE, Radin NS. An improved
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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
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DeGasperi R, Alroy J, Richard R, Goyal V, Orgad U, Lee RE, Warren
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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.
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