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

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 ...

Source: Orphanet Journal of Rare Diseases - May 25, 2018 Category: Internal Medicine 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 and Shuan-Pei Lin Tags: Research Source Type: research