Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China

Objective: To analyz the current situation of the diagnosis, treatment and prevention of methylmalonic acidemia, the phenotypes, biochemical features and genotypes of the patients in the mainland of China, were investigated. Methods: Tottally 1 003 patients of methylmalonic acidemia from 26 province...

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Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 6 vom: 02. Juni, Seite 414-420
1. Verfasser:	Liu, Y (VerfasserIn)
Weitere Verfasser:	Liu, Y P, Zhang, Y, Song, J Q, Zheng, H, Dong, H, Ma, Y Y, Wu, T F, Wang, Q, Li, X Y, Ding, Y, Li, D X, Jin, Y, Li, M Q, Wang, Z X, Yuan, Y, Li, H X, Qin, J, Yang, Y L
Format:	Online-Aufsatz
Sprache:	Chinese
Veröffentlicht:	2018
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	Journal Article Homocysteinemia Inherited metabolic disorders Methylmalonic acidemia Neonatal screening Prenatal diagnosis Carrier Proteins Methylmalonic Acid 8LL8S712J7 MMACHC protein, human mehr... EC 1.- Oxidoreductases Succinate-CoA Ligases EC 6.2.1.- SUCLA2 protein, human EC 6.2.1.5