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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...

Szczegółowa specyfikacja

Zapisane w:
Opis bibliograficzny
Wydane w:Ann Transl Med
Główni autorzy: Cheng, Chih-Ya, Hsu, Ting-Rong, Yang, Chia-Feng, Chu, Tzu-Hung, Lu, Yung-Hsiu, Chang, Sheng-Kai, Niu, Dau-Ming
Format: Artigo
Język:Inglês
Wydane: AME Publishing Company 2017
Hasła przedmiotowe:
Dostęp online: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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