Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson–Fabry disease: a case series

BACKGROUND: Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder resulting from a mutation of alpha-galactosidase A gene (GLA), causing deficiency in alpha-galactosidase activity. The enzyme deficit can lead to storage of globotriaosylceramide in various organs including heart. Stu...

Descripción completa

Detalles Bibliográficos
Autores principales: Tomioka, Daisuke, Kato, Koichi, Ozawa, Tomoya, Kodama, Kenji, Takahashi, Hiroaki, Dochi, Kenichi, Ueno, Yoshiki, Nakagawa, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7873798/
https://www.ncbi.nlm.nih.gov/pubmed/33598617
http://dx.doi.org/10.1093/ehjcr/ytaa538

Ejemplares similares

Ejemplares similares