AB049. Diagnosis and treatment of phenylketonuria in Taiwan- experience from a national newborn screening confirmatory center

BACKGROUND: Newborn screening for phenylketonuria has been started in Taiwan since 1985. Until December 2016, a total of >3 million newborns had been screened by our team. METHODS: Data from newborn screening, follow up test, treatment and clinical outcome were reviewed. Mutation analysis was per...

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Vydáno v:Ann Transl Med
Hlavní autoři: Cheng, Chih-Ya, Hsu, Ting-Rong, Yang, Chia-Feng, Chu, Tzu-Hung, Lu, Yung-Hsiu, Chang, Sheng-Kai, Niu, Dau-Ming
Médium: Artigo
Jazyk:Inglês
Vydáno: AME Publishing Company 2017
Témata:
Newborn Screening, Inborn Errors of Metabolism
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641728/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s049
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