These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

436 related articles for article (PubMed ID: 20505683)

  • 1. Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
    Lee BH; Heo SH; Kim GH; Park JY; Kim WS; Kang DH; Choe KH; Kim WH; Yang SH; Yoo HW
    J Hum Genet; 2010 Aug; 55(8):512-7. PubMed ID: 20505683
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
    Yasuda M; Shabbeer J; Benson SD; Maire I; Burnett RM; Desnick RJ
    Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
    [TBL] [Abstract][Full Text] [Related]  

  • 3. No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene.
    Kobayashi M; Ohashi T; Fukuda T; Yanagisawa T; Inomata T; Nagaoka T; Kitagawa T; Eto Y; Ida H; Kusano E
    Mol Genet Metab; 2012 Dec; 107(4):711-5. PubMed ID: 23146289
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.
    Park JY; Kim GH; Kim SS; Ko JM; Lee JJ; Yoo HW
    Exp Mol Med; 2009 Jan; 41(1):1-7. PubMed ID: 19287194
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.
    Yoshimitsu M; Higuchi K; Miyata M; Devine S; Mattman A; Sirrs S; Medin JA; Tei C; Takenaka T
    J Cardiol; 2011 May; 57(3):345-53. PubMed ID: 21333496
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.
    Togawa T; Tsukimura T; Kodama T; Tanaka T; Kawashima I; Saito S; Ohno K; Fukushige T; Kanekura T; Satomura A; Kang DH; Lee BH; Yoo HW; Doi K; Noiri E; Sakuraba H
    Mol Genet Metab; 2012 Apr; 105(4):615-20. PubMed ID: 22305854
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].
    Okumiya T; Takata T; Sasaki M; Sakuraba H
    Rinsho Byori; 1997 Feb; 45(2):127-35. PubMed ID: 9120996
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study.
    Inoue T; Hattori K; Ihara K; Ishii A; Nakamura K; Hirose S
    J Hum Genet; 2013 Aug; 58(8):548-52. PubMed ID: 23677059
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
    Okumiya T; Ishii S; Takenaka T; Kase R; Kamei S; Sakuraba H; Suzuki Y
    Biochem Biophys Res Commun; 1995 Sep; 214(3):1219-24. PubMed ID: 7575533
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body.
    Oikawa M; Sakamoto N; Kobayashi A; Suzuki S; Yoshihisa A; Yamaki T; Nakazato K; Suzuki H; Saitoh S; Kiko Y; Nakano H; Hayashi T; Kimura A; Takeishi Y
    BMC Cardiovasc Disord; 2016 May; 16():83. PubMed ID: 27160240
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
    Schäfer E; Baron K; Widmer U; Deegan P; Neumann HP; Sunder-Plassmann G; Johansson JO; Whybra C; Ries M; Pastores GM; Mehta A; Beck M; Gal A
    Hum Mutat; 2005 Apr; 25(4):412. PubMed ID: 15776423
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
    Rodríguez-Marí A; Coll MJ; Chabás A
    Hum Mutat; 2003 Sep; 22(3):258. PubMed ID: 12938095
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients.
    Nishino T; Obata Y; Furusu A; Hirose M; Shinzato K; Hattori K; Nakamura K; Matsumoto T; Endo F; Kohno S
    Ren Fail; 2012; 34(5):566-70. PubMed ID: 22563919
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
    De Brabander I; Yperzeele L; Ceuterick-De Groote C; Brouns R; Baker R; Belachew S; Delbecq J; De Keulenaer G; Dethy S; Eyskens F; Fumal A; Hemelsoet D; Hughes D; Jeangette S; Nuytten D; Redondo P; Sadzot B; Sindic C; Sheorajpanday R; Thijs V; Van Broeckhoven C; De Deyn PP
    Clin Neurol Neurosurg; 2013 Jul; 115(7):1088-93. PubMed ID: 23219219
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Disease manifestations and X inactivation in heterozygous females with Fabry disease.
    Maier EM; Osterrieder S; Whybra C; Ries M; Gal A; Beck M; Roscher AA; Muntau AC
    Acta Paediatr Suppl; 2006 Apr; 95(451):30-8. PubMed ID: 16720462
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
    Monserrat L; Gimeno-Blanes JR; Marín F; Hermida-Prieto M; García-Honrubia A; Pérez I; Fernández X; de Nicolas R; de la Morena G; Payá E; Yagüe J; Egido J
    J Am Coll Cardiol; 2007 Dec; 50(25):2399-403. PubMed ID: 18154965
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 406(2):285-95. PubMed ID: 17555407
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fabry disease: 20 novel GLA mutations in 35 families.
    Blaydon D; Hill J; Winchester B
    Hum Mutat; 2001 Nov; 18(5):459. PubMed ID: 11668641
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.