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Journal Abstract Search

345 related items for PubMed ID: 9120996

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  • 3. [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; 42(6):628-35. PubMed ID: 7914243
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  • 7. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
    Garman SC, Garboczi DN.
    J Mol Biol; 2004 Mar 19; 337(2):319-35. PubMed ID: 15003450
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  • 10. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
    Shabbeer J, Robinson M, Desnick RJ.
    Hum Mutat; 2005 Mar 19; 25(3):299-305. PubMed ID: 15712228
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  • 11. Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
    Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC, Fan JQ.
    Biochem J; 2007 Sep 01; 406(2):285-95. PubMed ID: 17555407
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  • 13. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
    Eng CM, Desnick RJ.
    Hum Mutat; 1994 Sep 01; 3(2):103-11. PubMed ID: 7911050
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  • 15. A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
    Konoshita T, Mutoh H, Yokoi T, Koni I, Miyamori I, Mabuchi H.
    Clin Nephrol; 2001 Mar 01; 55(3):243-7. PubMed ID: 11316246
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  • 16. Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.
    Celtikci B, Topçu M, Ozkara HA.
    Clin Biochem; 2011 Jul 01; 44(10-11):809-12. PubMed ID: 21569769
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  • 17. 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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  • 18. Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.
    Ishii S, Suzuki Y, Fan JQ.
    Arch Biochem Biophys; 2000 May 15; 377(2):228-33. PubMed ID: 10845698
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  • 20. Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors.
    Przybylska M, Wu IH, Zhao H, Ziegler RJ, Tousignant JD, Desnick RJ, Scheule RK, Cheng SH, Yew NS.
    J Gene Med; 2004 Jan 15; 6(1):85-92. PubMed ID: 14716680
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