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Journal Abstract Search

181 related items for PubMed ID: 4062951

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  • 7. 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; 76(5):747-55. PubMed ID: 5477334
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  • 9. Homozygote and heterozygote identification.
    Wenger DA, Roth S.
    Prog Clin Biol Res; 1982 Nov; 95():551-72. PubMed ID: 6812086
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  • 10. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.
    Tybulewicz VL, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP.
    Nature; 1992 Jun 04; 357(6377):407-10. PubMed ID: 1594045
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  • 11. Synthesis of a fluorescent derivative of glucosyl ceramide for the sensitive determination of glucocerebrosidase activity.
    Dinur T, Grabowski GA, Desnick RJ, Gatt S.
    Anal Biochem; 1984 Jan 04; 136(1):223-34. PubMed ID: 6424502
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  • 12. Use of fluorescent substrates for characterization of Gaucher disease mutations.
    Ron I, Dagan A, Gatt S, Pasmanik-Chor M, Horowitz M.
    Blood Cells Mol Dis; 2005 Jan 04; 35(1):57-65. PubMed ID: 15916907
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  • 13. Glucocerebroside storage in normal monocyte cultures.
    Hardy B, Teitelman-Weissman B, Chazan S, Neri A.
    Biomed Pharmacother; 1987 Jan 04; 41(1):40-4. PubMed ID: 3607254
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  • 14. [Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity].
    Beĭer EM, Bukina TM, Tsvetkova IV.
    Vopr Med Khim; 2000 Jan 04; 46(5):451-4. PubMed ID: 11204625
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  • 16. Gaucher disease: a century of delineation and research. Enzyme replacement therapy: model and clinical studies.
    Beutler E, Dale GL.
    Prog Clin Biol Res; 1982 Jan 04; 95():703-16. PubMed ID: 7122644
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  • 17. Erythrocytes as carriers for glucocerebrosidase.
    Ihler GM.
    Prog Clin Biol Res; 1982 Jan 04; 95():655-67. PubMed ID: 7122642
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  • 19. [Principles of diagnosis and the clinical course of 8 cases of Gaucher's disease (beta-glucocerebrosidase deficiency)].
    Tylki-Szymańska A, Maciejko D, Rujner J, Goryluk B, Pronicka E.
    Pediatr Pol; 1987 Jan 04; 62(1):9-18. PubMed ID: 3615053
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