Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease

ObjectiveThis article analyzes the data of four families with mutations of the GLA (galactosidase) gene with a special focus on the clinical presentation, diagnosis, and interdisciplinary clinical management of Fabry disease (FD) and enzyme replacement therapy (ERT) treatment, and has the aim to ass...

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Bibliographic Details
Main Authors: Peng Gou, Jie Leng, Xinran Cheng, Jing Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Pediatrics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1057014/full