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Journal Abstract Search

249 related items for PubMed ID: 8878432

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  • 4. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
    Ashton-Prolla P, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ.
    J Investig Med; 2000 Jul; 48(4):227-35. PubMed ID: 10916280
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  • 7. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
    Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I.
    Mol Genet Metab; 2003 Nov; 80(3):307-14. PubMed ID: 14680977
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  • 13. In vitro study of encapsulation therapy for Fabry disease using genetically engineered CHO cell line.
    Naganawa Y, Ohsugi K, Kase R, Date I, Sakuraba H, Sakuragawa N.
    Cell Transplant; 2002 Nov; 11(4):325-9. PubMed ID: 12162373
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  • 14. Purification and characterization of human alpha-galactosidase A expressed in insect cells using a baculovirus vector.
    Chen Y, Jin M, Goodrich L, Smith G, Coppola G, Calhoun DH.
    Protein Expr Purif; 2000 Nov; 20(2):228-36. PubMed ID: 11049747
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  • 16. 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; 25(3):299-305. PubMed ID: 15712228
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  • 17. Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
    Sawada K, Mizoguchi K, Hishida A, Kaneko E, Koide Y, Nishimura K, Kimura M.
    Clin Nephrol; 1996 May; 45(5):289-94. PubMed ID: 8738659
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  • 18. Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vector.
    Ohsugi K, Kobayashi K, Itoh K, Sakuraba H, Sakuragawa N.
    J Hum Genet; 2000 May; 45(1):1-5. PubMed ID: 10697955
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  • 19. Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes.
    Ishii S, Sakuraba H, Shimmoto M, Minamikawa-Tachino R, Suzuki T, Suzuki Y.
    Ann Neurol; 1991 May; 29(5):560-4. PubMed ID: 1650161
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