The diagnosis and management of mucopolysaccharidosis type II

• Main Authors: Shao-Jia Mao (Author), Qing-Qing Chen (Author), Yang-Li Dai (Author), Guan-Ping Dong (Author), Chao-Chun Zou (Author)
• Format: Book
• Published: BMC, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...