A classic variant of Fabry disease in a family with the M296I late-onset variant
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Earth and Planetary Sciences,General Environmental Science
Link
https://link.springer.com/content/pdf/10.1007/s13730-020-00527-0.pdf
Reference17 articles.
1. Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr. 2003;162:767–72.
2. Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, et al. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase: data from the Fabry Registry. J Med Genet. 2016;53:495–502.
3. Čerkauskaite A, Čerkauskiene R, Miglinas M, Laurinavičius A, Ding C, Rolfs A, et al. Genotype-phenotype correlation in a new fabry-disease-causing mutation. Medicina (Kaunas). 2019;55:122.
4. Nishino T, Obata Y, Furusu A, Hirose M, Shinzato K, Hattori K, et al. Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients. Ren Fail. 2012;34:566–70.
5. Peng H, Xu X, Zhang L, Zhang X, Peng H, Zheng Y, et al. GLA variation pE66Q identified as the genetic etiology of Fabry disease using exome sequencing. Gene. 2016;575:363–7.
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1. Discordant renal progression of Fabry disease in male monozygotic twins: a case report;Frontiers in Genetics;2023-06-14
2. Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure;Clinical Kidney Journal;2022-12-15
3. Fabry disease in childhood - overview and a case report;Česko-slovenská pediatrie;2022-08-25
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