Wolman disease with novel mutation of LIPA gene in a Chinese infant

OBJECTIVE: To explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis

Détails bibliographiques
Publié dans:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 50(2012), 8 vom: 16. Aug., Seite 601-5
Auteur principal: Huang, Yong-lan (Auteur)
Autres auteurs: Sheng, Hui-ying, Zhao, Xiao-yuan, Yu, Jia-kang, Li, Le, Liu, Hong-sheng, Gu, Cong-min, He, Deng-min, Liu, Li
Format: Article
Langue:Chinese
Publié: 2012
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 LIPA protein, human EC 3.1.1.13 Sterol Esterase Lipase EC 3.1.1.3