Ontology highlight
ABSTRACT:
SUBMITTER: Wang J
PROVIDER: S-EPMC4583918 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Wang Jun J Li Erzhen E Wang Liwen L Wang Zhilong Z Yang Shenghai S Zhou Qiao Q Chen Qian Q
International journal of clinical and experimental pathology 20150801 8
Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. The gene MMACHC responsible for the cblC type had been identified, which enables molecular diagnostics. Here, we report four cblC type cases, which were identified by the typical manifestations, and a new approach of next-generation sequencing platform in pediatrics for genetic ...[more]