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November 1993, Vol 147, No. 11 >
Article | November 1993

Modern Diagnosis and Treatment of Gaucher's Disease FREE

Ernest Beutler, MD
[+] Author Affiliations

Accepted for publication June 14, 1993.

Reprint requests to Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10666 N Torrey Pines Rd, La Jolla, CA 92037 (Dr Beutler).


Am J Dis Child. 1993;147(11):1175-1183. doi:10.1001/archpedi.1993.02160350049007.
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References
Comments

Most physicians regard Gaucher's disease as a rare disorder, vaguely remembered among other esoteric diseases that they were forced to memorize as medical students. In point of fact, Gaucher's disease is the most common of the glycolipid storage disorders. The frequency of the disease genotype is about 1:1000 in the Ashkenazi Jewish population, the ethnic group in which it is most commonly found. The importance of understanding this disorder has been increased by recent developments that have simplified the diagnosis, made possible population-based screening, and provided an effective therapy for those patients who need it.

CLINICAL MANIFESTATIONS  Clinically, Gaucher's disease has been divided into three types. 1 Type 1 is the most common form and is characterized by sparing of the central nervous system from the primary effects of glycolipid accumulation. The rare type 2 Gaucher's disease, in contrast, is an acute form with

REFERENCES

1 +
Barranger JA, Ginns EI.  Glucosylceramide lipidoses: Gaucher disease . In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic Basis of Inherited Disease II . 6th ed. New York, NY: McGraw-Hill International Book Co; 1989;:1677-1698.
2 +
Sidransky E, Sherer DM, Ginns EI.  Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene . Pediatr Res . 1992;;32:494-498.
3 +
Erikson A.  Gaucher disease: Norrbottnian type (III):neuropaediatric and neurobiological aspects of clinical patterns and treatment . Acta Paediatr Scand . 1986;;326:7-42.
4 +
Zimran A, Kay AC, Gelbart T, Garver P, Saven A, Beutler E.  Gaucher disease: clinical, laboratory, radiologic and genetic features of 53 patients . Medicine . 1992;;71:337-353.
5 +
Sorge J, Gross E, West C, Beutler E.  High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease . J Clin Invest . 1990;;86:1137-1141.
6 +
Beutler E, Gelbart T, West C.  Identification of six new Gaucher disease mutations . Genomics . 1993;;15:203-205.
7 +
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 heterozygote state . Proc Natl Acad Sci U S A . 1991;; 88:10544-10547.
8 +
Beutler E, Gelbart T, Kuhl W, Zimran A, West C.  Mutations in Jewish patients with Gaucher disease . Blood . 1992;;79:1662-1666.
9 +
Graves PN, Grabowski GA, Eisner R, Palese P, Smith FI.  Gaucher disease type 1: cloning and characterization of a cDNA encoding acid β-glucosidase from an Ashkenazi Jewish patient . DNA . 1988;;7:521-528.
10 +
Eyal N, Firon N, Wilder S, Kolodny EH, Horowitz M.  Three unique base pair changes in a family with Gaucher disease . Hum Genet . 1991;;87: 328-332.
11 +
Latham TE, Theophilus BDM, Grabowski GA, Smith FI.  Heterogeneity of mutations in the acid β-glucosidase gene of Gaucher disease patients . DNA Cell Biol . 1991;;10:15-21.
12 +
Kawame H, Eto Y.  A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients . Am J Hum Genet . 1991;;49:1378-1380.
13 +
Beutler E, Gelbart T.  Gaucher disease associated with a unique Kpnl restriction site: identification of the amino acid substitution . Ann Hum Genet . 1990;;54:149-153.
14 +
He G-S, Grace ME, Grabowski GA.  Gaucher disease: four rare missense mutations encoding F21 31, F289Y, T3231 and R463C in type I variants . Hum Mutat . 1992;;1:423-427.
15 +
Eyal N, Wilder S, Horowitz M.  Prevalent and rare mutations among Gaucher patients . Gene . 1990;;96:277-283.
16 +
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;; 90:294-296.
17 +
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;;85:2349-2352, 5708.
18 +
Theophilus BDM, Latham T, Grabowski GA, Smith FI.  Comparison of RNase A, chemical cleavage, and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid β-glucosidase gene . Nucleic Acids Res . 1989;;17:7707-7722.
19 +
Wigderson M, Firon N, Horowitz Z, et al.  Characterization of mutations in Gaucher patients by cDNA cloning . Am J Hum Genet . 1989;;44:365-377.
20 +
Tsuji S, Choudary PV, Martin BM, et al.  A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease . N Engl J Med . 1987;;316:570-575.
21 +
Hong CM, Ohashi T, Yu XJ, Weiler S, Barranger JA.  Sequence of two alleles responsible for Gaucher disease . DNA Cell Biol . 1990;;9:233-241.
22 +
Latham T, Grabowski GA, Theophilus BDM, Smith FI.  Complex alleles of the acid β-glucosidase gene in Gaucher disease . Am J Hum Genet . 1990;;47:79-86.
23 +
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;;85: 219-222.
24 +
Beutler E.  Gaucher's disease . N Engl J Med . 1991;;325:1354-1360.
25 +
Beutler E.  Gaucher disease: new molecular approaches to diagnosis and treatment . Science . 1992;;256:794-799.
26 +
Tybulewicz VLJ, Tremblay ML, LaMarca ME, et al.  Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene . Nature . 1992;;357:407-410.
27 +
Ohashi T, Hong CM, Weiler S, et al.  Characterization of human glucocerebrosidase from different mutant alleles . J Biol Chem . 1991;;266:3661-3667.
28 +
Beutler E, Nguyen NJ, Henneberger MW, et al.  Gaucher disease: gene frequencies in the Ashkenazi Jewish population . Am J Hum Genet . 1993;;52: 85-88.
29 +
Sidransky E, Tsuji S, Martin BM, Stubblefield B, Ginns EI.  DNA mutation analysis of Gaucher patients . Am J Med Genet . 1992;;42:331-336.
30 +
Kattlove HE, Williams JC, Gaynor E, Spivack M, Bradley RM, Brady RO.  Gaucher cells in chronic myelocytic leukemia: an acquired abnormality . Blood . 1969;;33:379-390.
31 +
Albrecht M.  'Gaucher-Zellen' bei chronisch myeloischer Leukaemie . Blut . 1966;;13:169-179.
32 +
Papadimitriou JC, Chakravarthy A, Heyman MR.  Pseudo-Gaucher cells preceding the appearance of immunoblastic lymphoma . Am J Clin Pathol . 1988;;90:454-458.
33 +
Zidar BL, Hartsock RJ, Lee RE, et al.  Pseudo-Gaucher cells in the bone marrow of a patient with Hodgkin's disease . Am J Clin Pathol . 1987;;87:533-536.
34 +
Scullin DC Jr, Shelburne JD, Cohen HJ.  Pseudo-Gaucher cells in multiple myeloma . Am J Med . 1979;;67:347-352.
35 +
Kampine JP, Brady RO, Kanfer JN.  Diagnosis of Gaucher's disease and Niemann-Pick disease with small samples of venous blood . Science . 1967;; 155:86-88.
36 +
Beutler E, Kuhl W.  Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leukocytes . Lancet . 1970;;1:612-613.
37 +
Beutler E, Kuhl W.  The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of β-glucosidase activity in peripheral blood leukocytes . J Lab Clin Med . 1970;;76:747-755.
38 +
Klibansky C, Hoffman J, Zaizov R, Matoth Y.  Gaucher's disease, chronic adult type: a comparative study of glucocerebroside and methylumbelliferyl-glucopyranoside cleaving potency in leukocytes . Biomedicine . 1974;;20:24-30.
39 +
Losman MJ.  Beta-glucosidase activity as a diagnostic index of Gaucher's disease . S Air Med J . 1974;;48:1150-1152.
40 +
Peters SP, Lee RE, Glew RH.  A microassay for Gaucher's disease . Clin Chim Acta . 1975;;60:391-396.
41 +
Raghavan SS, Topol J, Kolodny EH.  Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease . Am J Hum Genet . 1980;;32:158-173.
42 +
Grabowski GA, Dinur T, Gatt S, et al.  Gaucher type 1 (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis . In: Desnick RJ, Gatt S, Grabowski GA, eds. Gaucher Disease: A Century of Delineation and Research . New York, NY: Alan R Liss Inc; 1982;:573-595.
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Beutler E.  Newer aspects of some interesting lipid storage diseases: Tay-Sachs and Gaucher's diseases . West J Med . 1977;;126:46-54.
44 +
Govrin-Yehudain J, Bar-Maor JA.  Partial splenectomy in Gaucher's disease . Isr J Med Sci . 1980;;16:665-668.
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Stellin GP, Lilly JR, Githens JH.  On partial splenectomy in Gaucher's disease . Pediatrics . 1986;;77:618-619.
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Morgenstern L, Phillips EH, Fermelia D, Weinstein IM.  Near-total splenectomy for massive splenomegaly due to Gaucher disease: a new surgical approach . Mt Sinai J Med . 1986;;53:501-505.
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Rodgers BM, Tribble C, Joob A.  Partial splenectomy for Gaucher's disease . Ann Surg . 1987;;205:693-698.
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Guzzetta PC, Ruley EJ, Merrick HFW, Verderese C, Barton N.  Elective subtotal splenectomy: indications and results in 33 patients . Ann Surg . 1990;; 211:34-42.
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Zer M, Freud E.  Subtotal splenectomy in Gaucher's disease: towards a definition of critical splenic mass . Br J Surg . 1992;;79:742-744.
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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;;164:345-347.
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Sato Y, Beutler E.  Binding, internalization, and degradation of mannose-terminated glucocerebrosidase by macrophages . J Clin Invest . 1993;;91:1909-1917.
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Grabowski GA, Pastores G, Brady RO, Barton NW. Recombinant enzyme therapy in Gaucher disease type 1. Pediatr Res. In press.
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Barton NW, Brady RO, Dambrosia JM, et al.  Replacement therapy for inherited enzyme deficiency: macrophage-targeted glucocerebrosidase for Gaucher's disease . N Engl J Med . 1991;;324:1464-1470.
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Beutler E, Kay A, Saven A, et al.  Enzyme replacement therapy for Gaucher disease . Blood . 1991;;78:1183-1189.
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Barton NW, Brady RO, Dambrosia JM, et al.  Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease . J Pediatr . 1992;;120:277-280.
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Figueroa ML, Rosenbloom BE, Kay AC, et al.  A less costly regimen of alglucerase to treat Gaucher's disease . N Engl J Med . 1992;;327:1632-1636.
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Hollak CEM, Aerts JMFG, van Oers MHJ.  Treatment of Gaucher's disease . N Engl J Med . 1993;;328:1565-1566.
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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;;83:541-546.
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Fallet S, Sibille A, Mendelson R, Shapiro D, Hermann G, Grabowski GA.  Enzyme augmentation in moderate to life-threatening Gaucher disease . Pediatr Res . 1992;;31:496-502.
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Barton NW, Brady RO, Dambrosia JM.  Treatment of Gaucher's disease . N Engl J Med . 1993;;328:1564-1565.
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Moscicki RA, Taunton-Rigby A.  Treatment of Gaucher's disease . N Engl J Med . 1993;;328:1564.
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Blitzer MG, McDowell GA.  Tay-Sachs disease as a model for screening inborn errors . Clin Lab Med . 1992;;12:463-480.
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78 +
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79 +
Navon R, Padeh B, Adam A.  Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease . Am J Hum Genet . 1973;;25:287-293.
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Sidransky E, Martin BM, Ginns EI.  Treatment of Gaucher's disease . N Engl J Med . 1993;;328:1566.
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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) ):124-127.
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Ohashi T, Boggs S, Robbins P, 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;;89:11332-11336.
83 +
Kohn DB, Nolta JA, Weinthal J, et al.  Toward gene therapy for Gaucher disease . Hum Gene Ther . 1991;;2:101-105.
84 +
Roman M, Axelrod JH, Dai Y, Naviaux RK, Friedmann T, Verma IM.  Circulating human or canine factor IX from retrovirally transduced primary myoblasts and established myoblast cell lines grafted into murine skeletal muscle . Somat Cell Mol Genet . 1992;;18:247-258.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

1 +
Barranger JA, Ginns EI.  Glucosylceramide lipidoses: Gaucher disease . In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic Basis of Inherited Disease II . 6th ed. New York, NY: McGraw-Hill International Book Co; 1989;:1677-1698.
2 +
Sidransky E, Sherer DM, Ginns EI.  Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene . Pediatr Res . 1992;;32:494-498.
3 +
Erikson A.  Gaucher disease: Norrbottnian type (III):neuropaediatric and neurobiological aspects of clinical patterns and treatment . Acta Paediatr Scand . 1986;;326:7-42.
4 +
Zimran A, Kay AC, Gelbart T, Garver P, Saven A, Beutler E.  Gaucher disease: clinical, laboratory, radiologic and genetic features of 53 patients . Medicine . 1992;;71:337-353.
5 +
Sorge J, Gross E, West C, Beutler E.  High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease . J Clin Invest . 1990;;86:1137-1141.
6 +
Beutler E, Gelbart T, West C.  Identification of six new Gaucher disease mutations . Genomics . 1993;;15:203-205.
7 +
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 heterozygote state . Proc Natl Acad Sci U S A . 1991;; 88:10544-10547.
8 +
Beutler E, Gelbart T, Kuhl W, Zimran A, West C.  Mutations in Jewish patients with Gaucher disease . Blood . 1992;;79:1662-1666.
9 +
Graves PN, Grabowski GA, Eisner R, Palese P, Smith FI.  Gaucher disease type 1: cloning and characterization of a cDNA encoding acid β-glucosidase from an Ashkenazi Jewish patient . DNA . 1988;;7:521-528.
10 +
Eyal N, Firon N, Wilder S, Kolodny EH, Horowitz M.  Three unique base pair changes in a family with Gaucher disease . Hum Genet . 1991;;87: 328-332.
11 +
Latham TE, Theophilus BDM, Grabowski GA, Smith FI.  Heterogeneity of mutations in the acid β-glucosidase gene of Gaucher disease patients . DNA Cell Biol . 1991;;10:15-21.
12 +
Kawame H, Eto Y.  A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients . Am J Hum Genet . 1991;;49:1378-1380.
13 +
Beutler E, Gelbart T.  Gaucher disease associated with a unique Kpnl restriction site: identification of the amino acid substitution . Ann Hum Genet . 1990;;54:149-153.
14 +
He G-S, Grace ME, Grabowski GA.  Gaucher disease: four rare missense mutations encoding F21 31, F289Y, T3231 and R463C in type I variants . Hum Mutat . 1992;;1:423-427.
15 +
Eyal N, Wilder S, Horowitz M.  Prevalent and rare mutations among Gaucher patients . Gene . 1990;;96:277-283.
16 +
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;; 90:294-296.
17 +
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;;85:2349-2352, 5708.
18 +
Theophilus BDM, Latham T, Grabowski GA, Smith FI.  Comparison of RNase A, chemical cleavage, and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid β-glucosidase gene . Nucleic Acids Res . 1989;;17:7707-7722.
19 +
Wigderson M, Firon N, Horowitz Z, et al.  Characterization of mutations in Gaucher patients by cDNA cloning . Am J Hum Genet . 1989;;44:365-377.
20 +
Tsuji S, Choudary PV, Martin BM, et al.  A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease . N Engl J Med . 1987;;316:570-575.
21 +
Hong CM, Ohashi T, Yu XJ, Weiler S, Barranger JA.  Sequence of two alleles responsible for Gaucher disease . DNA Cell Biol . 1990;;9:233-241.
22 +
Latham T, Grabowski GA, Theophilus BDM, Smith FI.  Complex alleles of the acid β-glucosidase gene in Gaucher disease . Am J Hum Genet . 1990;;47:79-86.
23 +
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;;85: 219-222.
24 +
Beutler E.  Gaucher's disease . N Engl J Med . 1991;;325:1354-1360.
25 +
Beutler E.  Gaucher disease: new molecular approaches to diagnosis and treatment . Science . 1992;;256:794-799.
26 +
Tybulewicz VLJ, Tremblay ML, LaMarca ME, et al.  Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene . Nature . 1992;;357:407-410.
27 +
Ohashi T, Hong CM, Weiler S, et al.  Characterization of human glucocerebrosidase from different mutant alleles . J Biol Chem . 1991;;266:3661-3667.
28 +
Beutler E, Nguyen NJ, Henneberger MW, et al.  Gaucher disease: gene frequencies in the Ashkenazi Jewish population . Am J Hum Genet . 1993;;52: 85-88.
29 +
Sidransky E, Tsuji S, Martin BM, Stubblefield B, Ginns EI.  DNA mutation analysis of Gaucher patients . Am J Med Genet . 1992;;42:331-336.
30 +
Kattlove HE, Williams JC, Gaynor E, Spivack M, Bradley RM, Brady RO.  Gaucher cells in chronic myelocytic leukemia: an acquired abnormality . Blood . 1969;;33:379-390.
31 +
Albrecht M.  'Gaucher-Zellen' bei chronisch myeloischer Leukaemie . Blut . 1966;;13:169-179.
32 +
Papadimitriou JC, Chakravarthy A, Heyman MR.  Pseudo-Gaucher cells preceding the appearance of immunoblastic lymphoma . Am J Clin Pathol . 1988;;90:454-458.
33 +
Zidar BL, Hartsock RJ, Lee RE, et al.  Pseudo-Gaucher cells in the bone marrow of a patient with Hodgkin's disease . Am J Clin Pathol . 1987;;87:533-536.
34 +
Scullin DC Jr, Shelburne JD, Cohen HJ.  Pseudo-Gaucher cells in multiple myeloma . Am J Med . 1979;;67:347-352.
35 +
Kampine JP, Brady RO, Kanfer JN.  Diagnosis of Gaucher's disease and Niemann-Pick disease with small samples of venous blood . Science . 1967;; 155:86-88.
36 +
Beutler E, Kuhl W.  Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leukocytes . Lancet . 1970;;1:612-613.
37 +
Beutler E, Kuhl W.  The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of β-glucosidase activity in peripheral blood leukocytes . J Lab Clin Med . 1970;;76:747-755.
38 +
Klibansky C, Hoffman J, Zaizov R, Matoth Y.  Gaucher's disease, chronic adult type: a comparative study of glucocerebroside and methylumbelliferyl-glucopyranoside cleaving potency in leukocytes . Biomedicine . 1974;;20:24-30.
39 +
Losman MJ.  Beta-glucosidase activity as a diagnostic index of Gaucher's disease . S Air Med J . 1974;;48:1150-1152.
40 +
Peters SP, Lee RE, Glew RH.  A microassay for Gaucher's disease . Clin Chim Acta . 1975;;60:391-396.
41 +
Raghavan SS, Topol J, Kolodny EH.  Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease . Am J Hum Genet . 1980;;32:158-173.
42 +
Grabowski GA, Dinur T, Gatt S, et al.  Gaucher type 1 (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis . In: Desnick RJ, Gatt S, Grabowski GA, eds. Gaucher Disease: A Century of Delineation and Research . New York, NY: Alan R Liss Inc; 1982;:573-595.
43 +
Beutler E.  Newer aspects of some interesting lipid storage diseases: Tay-Sachs and Gaucher's diseases . West J Med . 1977;;126:46-54.
44 +
Govrin-Yehudain J, Bar-Maor JA.  Partial splenectomy in Gaucher's disease . Isr J Med Sci . 1980;;16:665-668.
45 +
Stellin GP, Lilly JR, Githens JH.  On partial splenectomy in Gaucher's disease . Pediatrics . 1986;;77:618-619.
46 +
Morgenstern L, Phillips EH, Fermelia D, Weinstein IM.  Near-total splenectomy for massive splenomegaly due to Gaucher disease: a new surgical approach . Mt Sinai J Med . 1986;;53:501-505.
47 +
Rodgers BM, Tribble C, Joob A.  Partial splenectomy for Gaucher's disease . Ann Surg . 1987;;205:693-698.
48 +
Guzzetta PC, Ruley EJ, Merrick HFW, Verderese C, Barton N.  Elective subtotal splenectomy: indications and results in 33 patients . Ann Surg . 1990;; 211:34-42.
49 +
Zer M, Freud E.  Subtotal splenectomy in Gaucher's disease: towards a definition of critical splenic mass . Br J Surg . 1992;;79:742-744.
50 +
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