Rapid diagnosis, treatment and follow-up of pedigrees with late-onset methylmalonic aciduria and homocystinuria cobalamin C type

Rapid diagnosis, treatment and follow-up of pedigrees with late-onset methylmalonic aciduria and homocystinuria cobalamin C type

Objective To summarize phenotype, treatment principles and prognosis of 4 patients from 2 pedigrees with late-onset methylmalonic aciduria (MMA) and homocystinuria cobalamin C (cblC) type, so as to explore the pathophysiological mechanism of this disease. Methods and Results Exome sequencing was app...

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Bibliographic Details
Main Authors: Xiao-hui DUAN, Ying HAO, Wei-hong GU, Jin ZHANG, Ren-bin WANG
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2019-06-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Methylmalonic acid
Homocystinuria
MMACHC (not in MeSH)
Mutation
Pedigree
Online Access:http://cjcnn.org/index.php/cjcnn/article/view/1968

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