Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis

Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases (LSDs) caused by an inherited gene defect. MPS patients can remain undetected unless the initial signs or symptoms have been identified. Newborn screening (NBS) programs for MPSs have been implemented in Taiwan since 2015, and mo...

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Autors principals:	Chih-Kuang Chuang, Chung-Lin Lee, Ru-Yi Tu, Yun-Ting Lo, Fran Sisca, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2021-08-01
Col·lecció:	Diagnostics
Matèries:	mucopolysaccharidosis lysosomal storage disease newborn screening for MPS gold standard of MPS confirmation GAG-derived disaccharide
Accés en línia:	https://www.mdpi.com/2075-4418/11/9/1583
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