434 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]