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Diagnosis and Screening of Patients with Fabry Disease

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by absence or deficient activity of α-galactosidase A (α-Gal A) due to mutations in the α-galactosidase A gene (GLA), leading to progressive accumulation of globotriaosylceramide (Gb3) in tissues and organs including heart, kidney,...

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Dades bibliogràfiques
Publicat a:Ther Clin Risk Manag
Autors principals: Vardarli, Irfan, Rischpler, Christoph, Herrmann, Ken, Weidemann, Frank
Format: Artigo
Idioma:Inglês
Publicat: Dove 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7319521/
https://ncbi.nlm.nih.gov/pubmed/32606714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TCRM.S247814
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