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...

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Gepubliceerd in:Ann Transl Med
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: AME Publishing Company 2017
Onderwerpen:
Newborn Screening, Inborn Errors of Metabolism
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641795/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s054
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