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

OBJECTIVE: This 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 a...

Descripción completa

Detalles Bibliográficos
Autores principales: Gou, Peng, Leng, Jie, Cheng, Xinran, Zhang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9975747/
https://www.ncbi.nlm.nih.gov/pubmed/36873653
http://dx.doi.org/10.3389/fped.2023.1057014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9975747/
https://www.ncbi.nlm.nih.gov/pubmed/36873653
http://dx.doi.org/10.3389/fped.2023.1057014

Ejemplares similares