Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan

Mucopolysaccharidosis II (MPS II) is an X-linked, recessive, inborn metabolic disorder caused by defects in iduronate-2-sulfatase (IDS). The age at onset, disease severity, and rate of progression vary significantly among patients. This disease is classified into severe or mild forms depending on ne...

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Detalles Bibliográficos
Autores principales: Hattori, Yusuke, Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Yoshida, Shinichiro, Matsumoto, Shirou, Inoue, Takahito, Hirose, Shinichi, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694771/
http://dx.doi.org/10.1016/j.ymgmr.2023.101003

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