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Journal Abstract Search

101 related items for PubMed ID: 6812088

  • 1. Heterozygote detection of type I Gaucher disease using blood platelets.
    Nakagawa S, Kumin S, Sachs G, Nitowsky HM.
    Prog Clin Biol Res; 1982; 95():597-602. PubMed ID: 6812088
    [No Abstract] [Full Text] [Related]

  • 2. 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; 95():573-95. PubMed ID: 6812087
    [No Abstract] [Full Text] [Related]

  • 3. Homozygote and heterozygote identification.
    Wenger DA, Roth S.
    Prog Clin Biol Res; 1982; 95():551-72. PubMed ID: 6812086
    [No Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. [Heterogeneity of inborn glycolipidoses and glycoproteinoses and their enzymologic diagnosis].
    Tsvetkova IV.
    Vopr Med Khim; 1982 Jan 05; 28(3):32-41. PubMed ID: 6808764
    [No Abstract] [Full Text] [Related]

  • 6. 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 05; 76(5):747-55. PubMed ID: 5477334
    [No Abstract] [Full Text] [Related]

  • 7. Sodium taurocholate effect on beta-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytes.
    Magalhães J, Sá Miranda MC, Pinto R, Lemos M, Poenaru L.
    Clin Chim Acta; 1984 Aug 31; 141(2-3):111-8. PubMed ID: 6435915
    [Abstract] [Full Text] [Related]

  • 8. Clinical and enzyme studies in Gaucher disease.
    Kaur M, Kabra M, Kher A, Naik G, Bharucha BA, Verma IC.
    Indian Pediatr; 1996 Sep 31; 33(9):735-8. PubMed ID: 9057400
    [Abstract] [Full Text] [Related]

  • 9. Changes of serum hexosaminidase for the presumptive diagnosis of type I Gaucher disease in Tay-Sachs carrier screening.
    Nakagawa S, Kumin S, Sachs G, Nitowsky HM.
    Am J Med Genet; 1983 Mar 31; 14(3):525-32. PubMed ID: 6859103
    [Abstract] [Full Text] [Related]

  • 10. 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 31; 27(4):895-905. PubMed ID: 3425599
    [Abstract] [Full Text] [Related]

  • 11. Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients.
    Kolodny EH, Ullman MD, Mankin HJ, Raghavan SS, Topol J, Sullivan JL.
    Prog Clin Biol Res; 1982 Aug 31; 95():33-65. PubMed ID: 6289358
    [No Abstract] [Full Text] [Related]

  • 12. [Laboratory diagnosis of Gaucher's disease. Value of leukocyte beta-glucosidase determination].
    Turpin JC, Bauman N, Castaigne P.
    Nouv Presse Med; 1972 Jun 03; 1(23):1579-81. PubMed ID: 5035886
    [No Abstract] [Full Text] [Related]

  • 13. [Method for determination of hexosaminidases A and B in leukocytes and plasma. Application to the diagnosis of gangliosidosis A GM2].
    Buré J, Diebler MF, Polonovski J.
    Ann Biol Clin (Paris); 1974 Jun 03; 32(1):47-51. PubMed ID: 4209922
    [No Abstract] [Full Text] [Related]

  • 14. An improved fluorometric leukocyte beta-glucosidase assay for Gaucher's disease.
    Daniels LB, Glew RH, Diven WF, Lee RE, Radin NS.
    Clin Chim Acta; 1981 Sep 03; 115(3):369-75. PubMed ID: 6794954
    [Abstract] [Full Text] [Related]

  • 15. Qualitative characteristics of the beta-glucosidase isozymes.
    Choy FY, Davidson RG.
    Prog Clin Biol Res; 1982 Sep 03; 95():415-41. PubMed ID: 6812079
    [No Abstract] [Full Text] [Related]

  • 16. [The biochemical diagnosis of Gaucher disease].
    Yargui L, Mokhtari S, Arab M, Berhoune A.
    Arch Pediatr; 2005 Aug 03; 12(8):1301-9. PubMed ID: 15878824
    [Abstract] [Full Text] [Related]

  • 17. Synthetic substrate beta-glucosidase activity in leukocytes: a reproducible method for the identification of patients and carriers of Gaucher's disease.
    Wenger DA, Clark C, Sattler M, Wharton C.
    Clin Genet; 1978 Feb 03; 13(2):145-53. PubMed ID: 23912
    [Abstract] [Full Text] [Related]

  • 18. [The possibility of increasing the precision of biochemical diagnostics of Gaucher disease].
    Horovenko NH, Drozdova VD, Nedoboĭ AM, Ol'khovych NV, Pichkur NO, Tsyhankova MA, Radzikhovs'ka OV.
    Tsitol Genet; 2006 Feb 03; 40(3):67-71. PubMed ID: 16933855
    [Abstract] [Full Text] [Related]

  • 19. Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers.
    Michelin K, Wajner A, Bock H, Fachel A, Rosenberg R, Pires RF, Pereira ML, Giugliani R, Coelho JC.
    Clin Chim Acta; 2005 Dec 03; 362(1-2):101-9. PubMed ID: 16039637
    [Abstract] [Full Text] [Related]

  • 20. 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 03; 343(1-2):145-53. PubMed ID: 15115687
    [Abstract] [Full Text] [Related]

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