Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype
Author:
Funder
China Health Promotion Foundation
Publisher
Elsevier BV
Reference20 articles.
1. An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease;Germain;Mol. Genet. Metab.,2022
2. Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families;Cianci;Metab. Brain Dis.,2023
3. Twenty novel mutations in the alpha-galactosidase a gene causing Fabry disease;Topaloglu;Mol. Med.,1999
4. Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes;Glass;J. Comput. Assist. Tomogr.,2004
5. The dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels;Vedder;J. Inherit. Metab. Dis.,2007
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