Clinical and genetic studies on 76 patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria

Objective: To analyze the clinical features, genetic characteristics, treatment and follow-up results of patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria, and to discuss the optimal strategies for assessing and treating such patients. Methods: From January 1...

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Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 59(2021), 6 vom: 02. Juni, Seite 459-465
1. Verfasser: He, R X (VerfasserIn)
Weitere Verfasser: Dong, H, Zhang, H W, Zhang, Y, Kang, L L, Li, H, Shen, M, Mo, R, Song, J Q, Liu, Y P, Chen, Z H, Liu, Y, Jin, Y, Li, M Q, Zheng, H, Li, D X, Qin, J, Zhang, H F, Huang, M, Zheng, R X, Liang, D S, Tian, Y P, Yao, H X, Yang, Y L
Format: Online-Aufsatz
Sprache:Chinese
Veröffentlicht: 2021
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Journal Article Methylmalonic Acid 8LL8S712J7 MMACHC protein, human EC 1.- Oxidoreductases