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Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan

Background: Mucopolysaccharidosis II (MPS II) is an X-linked disorder resulting from a deficiency in lysosomal enzyme iduronate-2-sulfatase (IDS), which causes the accumulation of glycosaminoglycans (GAGs) in the lysosomes of many tissues and organs, leading to progressive cellular dysfunction. An M...

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Detalles Bibliográficos
Autores principales: Lin, Hsiang-Yu, Chang, Ya-Hui, Lee, Chung-Lin, Tu, Yuan-Rong, Lo, Yun-Ting, Hung, Pei-Wen, Niu, Dau-Ming, Liu, Mei-Ying, Liu, Hsin-Yun, Chen, Hsiao-Jan, Kao, Shu-Min, Wang, Li-Yun, Ho, Huey-Jane, Chuang, Chih-Kuang, Lin, Shuan-Pei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320252/
https://www.ncbi.nlm.nih.gov/pubmed/35887520
http://dx.doi.org/10.3390/jpm12071023