Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)

OBJECTIVE: Current studies of newborn screening for Fabry disease in Taiwan have revealed a remarkably high prevalence of cardiac-type Fabry disease with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A). DESIGN: Retrospective cohort study. SETTING: Tertiary medical centre. PARTICIPANTS:...

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Detalles Bibliográficos
Autores principales: Lin, Hsiang-Yu, Liu, Hao-Chuan, Huang, Yu-Hsiu, Liao, Hsuan-Chieh, Hsu, Ting-Rong, Shen, Chia-I, Li, Shao-Tzu, Li, Cheng-Fang, Lee, Li-Hong, Lee, Pi-Chang, Huang, Chun-Kai, Chiang, Chuan-Chi, Lin, Ching-Yuang, Lin, Shuan-Pei, Niu, Dau-Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2013
Materias:
Pharmacology and Therapeutics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3717460/
https://www.ncbi.nlm.nih.gov/pubmed/23864212
http://dx.doi.org/10.1136/bmjopen-2013-003146

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