Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan

Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan

Purpose: Anderson–Fabry disease (AFD) is an X-linked lysosomal-storage disease caused by pathogenic variants in the gene encoding alpha-galactosidase A (GLA). The purpose of this study was to investigate the clinical characteristics of patients with AFD and the types of medical specialists necessary...

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Main Authors: Daisuke Tomioka, Shunsuke Takagi, Fumiko Nakazeki, Ayano Takagi, Ryosuke Fukazawa, Ueno Yoshiki, Yu Mimura, Koichi Kato, Hiroshi Sakai, Kosuke Yamahara, Shinji Kume, Yoshihisa Nakagawa
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Anderson–Fabry disease
Prevalence
Interdepartmental collaboration
Genetic testing
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000424
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