Inborn errors of metabolism with a focus on functional analysis of a special mutation in MCCB causing 3-Methylcrotonyl-CoA carboxylase deficiency, and MMADHC in intracellular vitamin B12 metabolism, a gene in which mutations can lead to three Different phenotypes

[摘要]

[发布机构] University of Zurich

[效力级别] Medical Clinic

[关键词] Center for Integrative Human Physiology;Medical Clinic;570 Life sciences;biology;610 Medicine & health