Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses

Abstract Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) in the lysosome. The storage of GAGs leads to the involvement of several systems and even to the death of the patient. In recent years, an increasing number of therapies have i...

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Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Jing-Wen Li, Shao-Jia Mao, Yun-Qi Chao, Chen-Xi Hu, Yan-Jie Qian, Yang-Li Dai, Ke Huang, Zheng Shen, Chao-Chun Zou
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	BMC 2024-04-01
Σειρά:	Orphanet Journal of Rare Diseases
Θέματα:	Glycosaminoglycan Tandem mass spectrometry Biomarkers Newborn screening Mucopolysaccharidoses
Διαθέσιμο Online:	https://doi.org/10.1186/s13023-024-03195-w
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