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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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| Autori principali: | , , , , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Publishing Group
2013
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3717460/ https://ncbi.nlm.nih.gov/pubmed/23864212 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2013-003146 |
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