A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a genetic disease caused by the deficiency of α-L-iduronidase (IDUA) activity. MPS I is classified into three clinical phenotypes called Hurler, Scheie, and Hurler-Scheie syndromes according to their clinical severity. Treatments for MPS I are avai...

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書誌詳細
主要な著者: Lin, Shuan-Pei, Lin, Hsiang-Yu, Wang, Tuen-Jen, Chang, Chia-Ying, Lin, Chia-Hui, Huang, Sung-Fa, Tsai, Chia-Chen, Liu, Hsuan-Liang, Keutzer, Joan, Chuang, Chih-Kuang
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2013
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3849552/
https://ncbi.nlm.nih.gov/pubmed/24053568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-147
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