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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Yusuke Hattori, Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Takahito Inoue, Shinichi Hirose, Kimitoshi Nakamura
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2023-12-01
Schriftenreihe:Molecular Genetics and Metabolism Reports
Schlagworte:
Enzyme replacement therapy
Mucopolysaccharidosis type II
Iduronate-2-sulfatase
Newborn screening
Hunter syndrome
Online-Zugang:http://www.sciencedirect.com/science/article/pii/S2214426923000496
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