An atypical p.N215S variant of Fabry disease with end-stage renal failure
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference9 articles.
1. Fabry disease;Schiffmann;Handb. Clin. Neurol.,2015
2. Fabry disease;Germain;Orphanet J. Rare Dis.,2010
3. Clinical features of and recent advances in therapy for Fabry disease;Brady;JAMA,2000
4. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease;Eng;N. Engl. J. Med.,2001
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1. Early onset of nephrogenic diabetes insipidus due to fabry disease in a child with GLA N215S mutation: Case report and literature review;Heliyon;2023-05
2. Optimizing human α-galactosidase for treatment of Fabry disease;Scientific Reports;2023-03-23
3. Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes;Journal of Medical Genetics;2022-12-21
4. Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic;ESC Heart Failure;2022-09-10
5. Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-06
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