Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report

Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report

Abstract Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X‐linked recessive lysosomal storage disease caused by a mutation in the IDS gene and characterized by systemic accumulations of glycosaminoglycans. Its somatic symptoms can be relieved by enzyme replacement therapy (ERT) with id...

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Bibliographic Details
Main Authors: Kazuyoshi Tomita, Shungo Okamoto, Toshiyuki Seto, Takashi Hamazaki, Sairei So, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Hiroyuki Sonoda, Yuji Sato
Format: Article
Language:English
Published: Wiley 2021-11-01
Series:JIMD Reports
Subjects:
enzyme replacement therapy
Hunter syndrome
idursulfase
mucopolysaccharidosis II
neurocognitive development
pabinafusp alfa
Online Access:https://doi.org/10.1002/jmd2.12239

Internet

https://doi.org/10.1002/jmd2.12239

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