Yüklüyor......

Narrative review on Morbus Fabry: diagnosis and management of cardiac manifestations

Fabry disease (FD) is an X-linked lysosomal storage disorder due to reduced or undetectable α-galactosidase A (AGAL-A) enzyme activity caused by pathogenic variants in the AGAL-A gene (GLA). Tissue and organ changes are caused by widespread progressive accumulation of globotriaosylceramide (Gb(3)) a...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Cardiovasc Diagn Ther
Asıl Yazarlar: Linhart, Aleš, Paleček, Tomáš
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: AME Publishing Company 2021
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8102243/
https://ncbi.nlm.nih.gov/pubmed/33968642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/cdt-20-593
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!