403 related articles for article (PubMed ID: 23146289)
1. 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]
2. 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]
3. 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]
4. 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]
5. Fabry disease in patients with end-stage renal failure: the potential benefits of screening.
Bekri S; Enica A; Ghafari T; Plaza G; Champenois I; Choukroun G; Unwin R; Jaeger P
Nephron Clin Pract; 2005; 101(1):c33-8. PubMed ID: 15886492
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.
Duro G; Musumeci MB; Colomba P; Zizzo C; Albeggiani G; Mastromarino V; Volpe M; Autore C
Gene; 2014 Feb; 535(2):365-9. PubMed ID: 24140492
[TBL] [Abstract][Full Text] [Related]
8. Pathological Renal Findings of Chronic Renal Failure in a Patient with the E66Q Mutation in the α-galactosidase A Gene.
Satomura A; Fujita T; Nakayama T; Kusano H; Takayama E; Hamada H; Maruyama T
Intern Med; 2015; 54(14):1819-24. PubMed ID: 26179544
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients.
Doi K; Noiri E; Ishizu T; Negishi K; Suzuki Y; Hamasaki Y; Honda K; Fujita T; Tsukimura T; Togawa T; Saito S; Sakuraba H
J Hum Genet; 2012 Sep; 57(9):575-9. PubMed ID: 22695894
[TBL] [Abstract][Full Text] [Related]
11. Functional evaluation of a novel GLA causative mutation in Fabry disease.
Li P; Zhang L; Xiong Q; Wang Z; Cui X; Zhou YA; Wang Y; Xiao H; Wu C
Mol Genet Genomic Med; 2019 Sep; 7(9):e864. PubMed ID: 31321922
[TBL] [Abstract][Full Text] [Related]
12. Chaperone Therapy in Fabry Disease.
Weidemann F; Jovanovic A; Herrmann K; Vardarli I
Int J Mol Sci; 2022 Feb; 23(3):. PubMed ID: 35163813
[TBL] [Abstract][Full Text] [Related]
13. p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males.
Nakamura K; Sekijima Y; Nakamura K; Hattori K; Nagamatsu K; Shimizu Y; Yazaki M; Sakurai A; Endo F; Fukushima Y; Ikeda SI
Eur J Neurol; 2014; 21(1):49-56. PubMed ID: 23724928
[TBL] [Abstract][Full Text] [Related]
14. GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing.
Peng H; Xu X; Zhang L; Zhang X; Peng H; Zheng Y; Luo S; Guo H; Xia K; Li J; Yao H; Hu Z
Gene; 2016 Jan; 575(2 Pt 1):363-7. PubMed ID: 26456105
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Cardiac manifestations of Fabry disease in G3Stg/GlaKO and GlaKO mouse models-Translation to Fabry disease patients.
Kugadas A; Artoni P; Ruangsiriluk W; Zhao M; Boukharov N; Islam R; Volfson D; Derakhchan K
PLoS One; 2024; 19(5):e0304415. PubMed ID: 38820517
[TBL] [Abstract][Full Text] [Related]
17. Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.
Chong Y; Kim M; Koh ES; Shin SJ; Kim HS; Chung S
BMC Med Genet; 2016 Oct; 17(1):76. PubMed ID: 27776503
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
Csányi B; Hategan L; Nagy V; Obál I; Varga ET; Borbás J; Tringer A; Eichler S; Forster T; Rolfs A; Sepp R
Int Heart J; 2017 May; 58(3):454-458. PubMed ID: 28496025
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]