The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia

Objectives: To summarize the clinical and genetic characteristics of the patients with isolated methylmalonic acidemia and investigate the strategies for the diagnosis, treatment and prevention. Methods: Three hundred and fourteen patients (180 males, 134 females) with isolated methylmalonic acidemi...

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Publié dans:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 58(2020), 6 vom: 02. Juni, Seite 468-475
Auteur principal:	Kang, L L (Auteur)
Autres auteurs:	Liu, Y P, Shen, M, Chen, Z H, Song, J Q, He, R X, Liu, Y, Zhang, Y, Dong, H, Li, M Q, Jin, Y, Zheng, H, Wang, Q, Ding, Y, Li, X Y, Li, D X, Li, H X, Liu, X Q, Xiao, H J, Jiang, Y W, Xiong, H, Zhang, C Y, Wang, Z X, Yuan, Y, Liang, D S, Tian, Y P, Yang, Y L
Format:	Article en ligne
Langue:	Chinese
Publié:	2020
Accès à la collection:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:	Journal Article Methylmalonic acid Methylmalonyl-CoA mutase Newborn screening Tandem mass spectrometry Methylmalonic Acid 8LL8S712J7