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Journal Abstract Search

260 related items for PubMed ID: 6274191

  • 1. Heterozygote detection in Fabry disease utilizing multiple enzyme activities.
    Sheth KJ, Good TA, Murphy JV.
    Am J Med Genet; 1981; 10(2):141-6. PubMed ID: 6274191
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  • 9. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
    Germain DP, Poenaru L.
    Biochem Biophys Res Commun; 1999 Apr 21; 257(3):708-13. PubMed ID: 10208848
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  • 12. [Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease].
    Sakuraba H.
    Rinsho Byori; 1994 Jun 21; 42(6):628-35. PubMed ID: 7914243
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  • 13. Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.
    Spence MW, Goldbloom AL, Burgess JK, D'entremont D, Ripley BA, Weldon KL.
    J Med Genet; 1977 Apr 21; 14(2):91-9. PubMed ID: 404411
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  • 16. [Fabry disease: clinic and enzymatic diagnosis of homozygous and heterozygous. New therapeutic prospects].
    Peces R, Olea T.
    Nefrologia; 2002 Apr 21; 22(6):540-6. PubMed ID: 12516287
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  • 17. [Fabry disease: diagnostic due of substitutive enzyme-therapy].
    Barbey F, Widmer U, Burnier M, Lidove O.
    Rev Med Suisse Romande; 2002 Sep 21; 122(9):449-53. PubMed ID: 12422475
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  • 18. Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study.
    Hagège AA, Caudron E, Damy T, Roudaut R, Millaire A, Etchecopar-Chevreuil C, Tran TC, Jabbour F, Boucly C, Prognon P, Charron P, Germain DP, FOCUS study investigators.
    Heart; 2011 Jan 21; 97(2):131-6. PubMed ID: 21062768
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