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...

Description complète

Détails bibliographiques

Auteurs principaux:	Yusuke Hattori, Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Takahito Inoue, Shinichi Hirose, Kimitoshi Nakamura
Format:	Artigo
Langue:	Inglês
Publié:	Elsevier 2023-12-01
Collection:	Molecular Genetics and Metabolism Reports
Sujets:	Enzyme replacement therapy Mucopolysaccharidosis type II Iduronate-2-sulfatase Newborn screening Hunter syndrome
Accès en ligne:	http://www.sciencedirect.com/science/article/pii/S2214426923000496
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!