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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Principais autores:	Yusuke Hattori, Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Takahito Inoue, Shinichi Hirose, Kimitoshi Nakamura
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2023-12-01
Serija:	Molecular Genetics and Metabolism Reports
Teme:	Enzyme replacement therapy Mucopolysaccharidosis type II Iduronate-2-sulfatase Newborn screening Hunter syndrome
Online dostop:	http://www.sciencedirect.com/science/article/pii/S2214426923000496
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