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

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 idursulfase...

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Detalles Bibliográficos
Autores principales: Tomita, Kazuyoshi, Okamoto, Shungo, Seto, Toshiyuki, Hamazaki, Takashi, So, Sairei, Yamamoto, Tatsuyoshi, Tanizawa, Kazunori, Sonoda, Hiroyuki, Sato, Yuji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574176/
https://www.ncbi.nlm.nih.gov/pubmed/34765392
http://dx.doi.org/10.1002/jmd2.12239

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574176/
https://www.ncbi.nlm.nih.gov/pubmed/34765392
http://dx.doi.org/10.1002/jmd2.12239

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