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Clinical features and enzyme replacement therapy in 10 children with Fabry disease

OBJECTIVE: To summarize the clinical features, diagnosis and enzyme replacement therapy(ERT) of Fabry disease (FD) in children. METHODS: The clinical data, laboratory tests, genetic variations and treatment of 10 FD children diagnosed in Shandong Provincial Hospital from September 2020 to June 2022...

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Detalles Bibliográficos
Autores principales: Li, Qian, Wang, Jing, Tian, Minle, Yang, Zhenle, Yu, Lichun, Liu, Suwen, Wang, Cong, Wang, Xiaoyuan, Sun, Shuzhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9936091/
https://www.ncbi.nlm.nih.gov/pubmed/36816376
http://dx.doi.org/10.3389/fped.2023.1084336