Analysis of clinical phenotype and genetic mutation with outcome evaluation in one family of vitamin B12-dependent methylmalonic aciduria

Analysis of clinical phenotype and genetic mutation with outcome evaluation in one family of vitamin B12-dependent methylmalonic aciduria

<p><strong>Objective </strong> To explore the clinical features, genetic mutation and vitamin B<sub>12 </sub>therapeutive effectiveness in vitamin B<sub>12-</sub>dependent methylmalonic acidemia (MMA). <strong>Methods</strong> Clinical data in...

Full description

Bibliographic Details
Main Authors: LI Jing, Yi-ming SUN, Li-yu OU, Yu-ling ZHU, Liang WANG, Huan LI, Cheng ZHANG
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2017-07-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Methylmalonic acid
Metabolism, inborn errors
Vitamin B12
Phenotype
Genes
Mutation
Pedigree
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/1632

Internet

http://www.cjcnn.org/index.php/cjcnn/article/view/1632

Similar Items