AB054. Experiences during newborn screening for glutaric aciduria type 1: diagnosis, treatment, genotype, phenotype and outcomes

BACKGROUND: Glutaric aciduria type 1 (GA-1) is an organic acidemia with potentially severe neurological sequelae. In Taiwan, newborn screening (NBS) for GA-1 began in 2001, but large-scale reporting is lacking. This study describes Taiwan's largest NBS population to date. METHODS: Between 2001...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Ann Transl Med
Главные авторы: Khoo, Shih-Hong, Tsai, Fang-Chih, Wang, An-Guor, Lu, Yung-Hsiu, Chu, Tzu-Hung, Yang, Chia-Feng, Hsu, Ting-Rong, Lai, Chih-Jou, Niu, Dau-Ming
Формат: Artigo
Язык:Inglês
Опубликовано: AME Publishing Company 2017
Предметы:
Newborn Screening, Inborn Errors of Metabolism
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641795/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s054
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы