Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Abstract Background Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of genes encoding for lysosomal enzymes cause defects in the degradation of glycosaminoglycans (GAGs). The accumulation of GAGs in lysosomes results in cellular dysfunction and clinical abnormalities. T...

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Bibliographic Details
Main Authors: Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, You-Hsin Huang, Min-Ju Chan, Hsuan-Chieh Liao, Yun-Ting Lo, Li-Yun Wang, Ru-Yi Tu, Yi-Ya Fang, Tzu-Lin Chen, Hui-Chen Ho, Chuan-Chi Chiang, Shuan-Pei Lin
Format: Article
Language:English
Published: BMC 2018-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mucopolysaccharidoses
Glycosaminoglycans
Tandem mass spectrometry
α-iduronidase
Iduronate-2-sulfatase
DNA sequencing analysis
Online Access:http://link.springer.com/article/10.1186/s13023-018-0816-4

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http://link.springer.com/article/10.1186/s13023-018-0816-4

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