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Journal Abstract Search

220 related items for PubMed ID: 3425599

  • 1. Gaucher disease: accurate identification of asymptomatic French-Canadian carrier using nonlabeled authentic sphingolipid substrate N-palmitoyl dihydroglucocerebroside.
    Choy FY, Bouillon L, Laurin CA.
    Am J Med Genet; 1987 Aug; 27(4):895-905. PubMed ID: 3425599
    [Abstract] [Full Text] [Related]

  • 2. Assay of glucocerebrosidase using a fluorescent analogue of glucocerebroside for the diagnosis of Gaucher disease.
    Midorikawa M, Okada S, Yutaka T, Yabuuchi H, Naoi M, Kiuchi K, Yagi K.
    Biochem Int; 1985 Sep; 11(3):327-32. PubMed ID: 4062951
    [Abstract] [Full Text] [Related]

  • 3. Gaucher disease: comparative study of acid phosphatase and glucocerebrosidase in normal and type-1 Gaucher tissues.
    Choy FY.
    Am J Med Genet; 1985 Jul; 21(3):519-28. PubMed ID: 4025386
    [Abstract] [Full Text] [Related]

  • 4. Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.
    Matoth Y, Chazan S, Cnaan A, Gelernter I, Klibansky C.
    Am J Med Genet; 1987 Jul; 27(3):561-5. PubMed ID: 3631130
    [Abstract] [Full Text] [Related]

  • 5. Diagnosis of adult Gaucher disease: use of a new chromogenic substrate, 2-hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside, in cultured skin fibroblasts.
    Johnson WG, Gal AE, Miranda AF, Pentchev PG.
    Clin Chim Acta; 1980 Mar 14; 102(1):91-7. PubMed ID: 7389109
    [Abstract] [Full Text] [Related]

  • 6. Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
    Grabowski GA, Gatt S, Horowitz M.
    Crit Rev Biochem Mol Biol; 1990 Mar 14; 25(6):385-414. PubMed ID: 2127241
    [Abstract] [Full Text] [Related]

  • 7. An in situ study of beta-glucosidase activity in normal and Gaucher fibroblasts with fluorogenic probes.
    Kohen E, Kohen C, Hirschberg JG, Santus R, Grabowski G, Mangel W, Gatt S, Prince J.
    Cell Biochem Funct; 1993 Sep 14; 11(3):167-77. PubMed ID: 8403230
    [Abstract] [Full Text] [Related]

  • 8. Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients.
    Grabowski GA, Goldblatt J, Dinur T, Kruse J, Svennerholm L, Gatt S, Desnick RJ.
    Am J Med Genet; 1985 Jul 14; 21(3):529-49. PubMed ID: 3927728
    [Abstract] [Full Text] [Related]

  • 9. 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 14; 18(4):268-73. PubMed ID: 6777099
    [Abstract] [Full Text] [Related]

  • 10. [Identification of Krabbe disease in 2 brothers from East Germany using a new fluorogenic substrate for galactocerebrosidase].
    Vidershaĭn GIa, Zschiesche M, Seidlitz G.
    Vopr Med Khim; 1988 Oct 14; 34(1):87-9. PubMed ID: 3369131
    [Abstract] [Full Text] [Related]

  • 11. beta-Glucosidase assays in the diagnosis of Gaucher's disease.
    Daniels LB, Glew RH.
    Clin Chem; 1982 Apr 14; 28(4 Pt 1):569-77. PubMed ID: 6804115
    [Abstract] [Full Text] [Related]

  • 12. Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family.
    Choy FY.
    J Med Genet; 1988 May 14; 25(5):322-5. PubMed ID: 3385740
    [Abstract] [Full Text] [Related]

  • 13. Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver.
    Owada M, Sakiyama T, Kitagawa T.
    Pediatr Res; 1977 May 14; 11(5):641-6. PubMed ID: 870871
    [Abstract] [Full Text] [Related]

  • 14. Gaucher type I (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis.
    Grabowski GA, Dinur T, Gatt S, Desnick RJ.
    Prog Clin Biol Res; 1982 May 14; 95():573-95. PubMed ID: 6812087
    [No Abstract] [Full Text] [Related]

  • 15. Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease.
    Ben-Yoseph Y, Nadler HL.
    J Clin Pathol; 1978 Nov 14; 31(11):1091-3. PubMed ID: 105017
    [Abstract] [Full Text] [Related]

  • 16. Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease.
    Raghavan SS, Topol J, Kolodny EH.
    Am J Hum Genet; 1980 Mar 14; 32(2):158-73. PubMed ID: 6770675
    [Abstract] [Full Text] [Related]

  • 17. [A study of various properties of beta-galactocerebrosidase from human chorion using synthetic fluorescent substrates].
    Petushkova NA, Kozlova IK, Tsvetkova IV, Vidershaĭn GIa.
    Biokhimiia; 1988 Sep 14; 53(9):1539-45. PubMed ID: 3203114
    [Abstract] [Full Text] [Related]

  • 18. Assay of the beta-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and heterozygotes with the Norrbottnian type (Type 3) of Gaucher disease.
    Svennerholm L, Håkansson G, Dreborg S.
    Clin Chim Acta; 1980 Sep 25; 106(2):183-93. PubMed ID: 6773705
    [Abstract] [Full Text] [Related]

  • 19. Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients.
    Choy FY, Davidson RG.
    Am J Hum Genet; 1980 Sep 25; 32(5):670-80. PubMed ID: 6775530
    [Abstract] [Full Text] [Related]

  • 20. Heterozygote detection of type I Gaucher disease using blood platelets.
    Nakagawa S, Kumin S, Sachs G, Nitowsky HM.
    Clin Chim Acta; 1982 Jan 05; 118(1):99-107. PubMed ID: 6797762
    [Abstract] [Full Text] [Related]

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