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...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	Xiao-hui DUAN, Ying HAO, Wei-hong GU, Jin ZHANG, Ren-bin WANG
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	Tianjin Huanhu Hospital 2019-06-01
Sarja:	Chinese Journal of Contemporary Neurology and Neurosurgery
Aiheet:	Methylmalonic acid Homocystinuria MMACHC (not in MeSH) Mutation Pedigree
Linkit:	http://cjcnn.org/index.php/cjcnn/article/view/1968
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