Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type

OBJECTIVE: CblC is the most common type of methylmalonic acidemia with homocysteinemia. MMACHC is the coding gene. This study aimed at understanding clinical features and gene mutations in 2 Chinese pedigrees who had late-onset methylmalonic acidemia complicated with homocysteinemia

Détails bibliographiques
Publié dans:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 48(2010), 6 vom: 15. Juni, Seite 469-72
Auteur principal: Cui, Dong (Auteur)
Autres auteurs: Chen, Shu-li, Wen, Peng-qiang, Hu, Yu-hui, Chen, Xiao-wen, Shen, Dan, Yuan, Quan, Song, Ping, Liao, Jian-xiang, Li, Cheng-rong
Format: Article
Langue:Chinese
Publié: 2010
Accès à la collection:Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:Case Reports Journal Article Carrier Proteins Methylmalonic Acid 8LL8S712J7 MMACHC protein, human EC 1.- Oxidoreductases Vitamin B 12 P6YC3EG204