Article
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
Journal of the Chinese Medical Association : JCMA - 1 Apr 2017
Tsai Fang-Chih, Lee Han-Jui, Wang An-Guor, Hsieh Shu-Chen, Lu Yung-Hsiu, Lee Ming-Che, Pai Ju-Shan, Chu Tzu-Hung, Yang Chia-Feng, Hsu Ting-Rong, Lai Chih-Jou, Tsai Ming-Tzu, Ho Ping-Hsun, Lin Min-Chieh, Cheng Ling-Yee, Chuang Ya-Chin, Niu Dau-Ming
Abstract excerpt
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 newborn screening population to date. METHODS: Between 2001 and 2015, 1,490,636 newborns were screened for GA-1. Confirmatory examinations included the carnitine...
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