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...

Ful tanımlama

Kaydedildi:

Detaylı Bibliyografya
Asıl Yazarlar:	Yusuke Hattori, Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Takahito Inoue, Shinichi Hirose, Kimitoshi Nakamura
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	Elsevier 2023-12-01
Seri Bilgileri:	Molecular Genetics and Metabolism Reports
Konular:	Enzyme replacement therapy Mucopolysaccharidosis type II Iduronate-2-sulfatase Newborn screening Hunter syndrome
Online Erişim:	http://www.sciencedirect.com/science/article/pii/S2214426923000496
Etiketler:	Etiketle Etiket eklenmemiş, İlk siz ekleyin!

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

Benzer Materyaller