The diagnosis and management of mucopolysaccharidosis type II

Abstract Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degrade glycosaminoglycans (GAGs) in cells and influenc...

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Bibliographic Details
Published in:Italian Journal of Pediatrics
Main Authors: Shao-Jia Mao, Qing-Qing Chen, Yang-Li Dai, Guan-Ping Dong, Chao-Chun Zou
Format: Article
Language:English
Published: BMC 2024-10-01
Subjects:
Mucopolysaccharidosis type II
Glycosaminoglycans
Enzyme replacement therapy
Hematopoietic stem cell transplantation
Substrate reduction therapy
Gene therapy
Online Access:https://doi.org/10.1186/s13052-024-01769-9

Internet

https://doi.org/10.1186/s13052-024-01769-9

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