Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I

Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I

OBJECTIVE: Mucopolysaccharidosis type I (MPS I; MIM# 252800) is an autosomal recessive disease that results from the deficiency in the lysosomal enzyme α-L-iduronidase(IDUA). IDUA is one of the enzymes involved in degradation of glycosaminoglycans heparan sulphate and dermatan sulphate. The deficien...

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Détails bibliographiques
Publié dans:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 49(2011), 4 vom: 31. Apr., Seite 306-10
Auteur principal: Wang, Xin-Ning (Auteur)
Autres auteurs: Wei, Min, Shi, Hui-Ping, Qiu, Zheng-Qing, Yao, Feng-Xia, Meng, Yan, Zhang, Wei-Min
Format: Article
Langue:Chinese
Publié: 2011
Accès à la collection:Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:Case Reports English Abstract Journal Article Research Support, Non-U.S. Gov't Iduronidase EC 3.2.1.76