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Journal Abstract Search

158 related items for PubMed ID: 5012691

  • 1. Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts.
    Ho MW, Seck J, Schmidt D, Veath ML, Johnson W, Brady RO, O'Brien JS.
    Am J Hum Genet; 1972 Jan; 24(1):37-45. PubMed ID: 5012691
    [No Abstract] [Full Text] [Related]

  • 2. Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.
    Beutler E, Kuhl W, Trinidad F, Teplitz R, Nadler H.
    Am J Hum Genet; 1971 Jan; 23(1):62-6. PubMed ID: 5581982
    [No Abstract] [Full Text] [Related]

  • 3. Detection of Gaucher's disease and its carrier state from fibroblast cultures.
    Beutler E, Kuhl W, Trinidad F, Teplitz R, Nadler H.
    Lancet; 1970 Aug 15; 2(7668):369. PubMed ID: 4194474
    [No Abstract] [Full Text] [Related]

  • 4. Lysosomal enzyme variations in cultured normal skin fibroblasts.
    Milunsky A, Spielvogel C, Kanfer JN.
    Life Sci II; 1972 Nov 22; 11(22):1101-7. PubMed ID: 4663811
    [No Abstract] [Full Text] [Related]

  • 5. Gaucher's disease. Factors affecting the 4-methylum-belliferyl-beta-D-glucosidase activity of cultured skin fibroblasts.
    Butterworth J, Broadhead DM.
    Clin Genet; 1978 Aug 22; 14(2):77-9. PubMed ID: 28865
    [Abstract] [Full Text] [Related]

  • 6. Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts.
    Sengers RC, Lamers KJ, Bakkeren JA, Schretlen ED, Trijbels JM.
    Neuropadiatrie; 1975 Nov 22; 6(4):377-82. PubMed ID: 241947
    [Abstract] [Full Text] [Related]

  • 7. Gaucher's disease. I. Solubilization and electrophoresis of beta-glucosidase from leukocytes and cultured fibroblasts.
    Choy FY, Davidson RG.
    Pediatr Res; 1978 Dec 22; 12(12):1115-20. PubMed ID: 106357
    [No Abstract] [Full Text] [Related]

  • 8. Diagnosis of Gaucher's disease in cultured skin fibroblasts and leucocytes.
    Butterworth J, Broadhead DM.
    J Inherit Metab Dis; 1978 Dec 22; 1(3):111-3. PubMed ID: 116079
    [Abstract] [Full Text] [Related]

  • 9. Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver.
    Owada M, Sakiyama T, Kitagawa T.
    Pediatr Res; 1977 May 22; 11(5):641-6. PubMed ID: 870871
    [Abstract] [Full Text] [Related]

  • 10. 4-Methylumbelliferyl-beta-glucosidase in cultured human fibroblasts from controls and patients with Gaucher's disease.
    Hultberg B, Sjöblad S, Ockerman PA.
    Clin Chim Acta; 1973 Nov 23; 49(1):93-7. PubMed ID: 4764343
    [No Abstract] [Full Text] [Related]

  • 11.
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  • 12. 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.
    Beutler E, Kuhl W.
    J Lab Clin Med; 1970 Nov 23; 76(5):747-55. PubMed ID: 5477334
    [No Abstract] [Full Text] [Related]

  • 13. Biochemical study on beta-glucosidase in individuals with Gaucher's disease and normal subjects.
    Michelin K, Wajner A, Goulart Lda S, Fachel AA, Pereira ML, de Mello AS, Souza FT, Pires RF, Giugliani R, Coelho JC.
    Clin Chim Acta; 2004 May 23; 343(1-2):145-53. PubMed ID: 15115687
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
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  • 15. Beta-glucosidase activity as a diagnostic index of Gaucher's disease.
    Losman MJ.
    S Afr Med J; 1974 Jun 08; 48(27):1150-2. PubMed ID: 4417432
    [No Abstract] [Full Text] [Related]

  • 16. Gaucher's disease II. Studies on the kinetics of beta-glucosidase and the effects of sodium taurocholate in normal and Gaucher tissues.
    Choy FY, Davidson RG.
    Pediatr Res; 1980 Jan 08; 14(1):54-9. PubMed ID: 6767218
    [Abstract] [Full Text] [Related]

  • 17. Genetic heterogeneity in type I Gaucher disease.
    Devine EA, Beighton P, Petersen EM, Desnick RJ.
    Prog Clin Biol Res; 1982 Jan 08; 95():495-510. PubMed ID: 6812084
    [Abstract] [Full Text] [Related]

  • 18. A modified method for the identification of heterozygotes for Gaucher's disease using differential thermal inactivation.
    Goodman C, O'Brien JS.
    Clin Genet; 1980 Sep 08; 18(3):226-31. PubMed ID: 6777098
    [Abstract] [Full Text] [Related]

  • 19. beta-Glucosidase assays in the diagnosis of Gaucher's disease.
    Daniels LB, Glew RH.
    Clin Chem; 1982 Apr 08; 28(4 Pt 1):569-77. PubMed ID: 6804115
    [Abstract] [Full Text] [Related]

  • 20. Assay of the beta-glucosidase activity with natural labelled and artificial substrates in cultivated skin fibroblasts from homozygotes and heterozygotes with the Norrbottnian type of Gaucher disease.
    Håkansson G, Dreborg S, Lindsten J, Svennerholm L.
    Clin Genet; 1980 Oct 08; 18(4):268-73. PubMed ID: 6777099
    [Abstract] [Full Text] [Related]

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