A case of cerebral hemorrhage in patients with methylmalonic aciduria with hyperhomocystinuria / 中华神经科杂志
Chinese Journal of Neurology
; (12): 987-991, 2018.
Article
en Zh
| WPRIM
| ID: wpr-711064
Biblioteca responsable:
WPRO
ABSTRACT
A case of late-onset methylmalonic aciduria combined with hyperhomocysteinemia (cblC type) is reported. The main manifestations were the reduction of intelligence,the instability of walking,and the inability to take care of oneself,with secondary cerebral hemorrhage. The effect of treatment was good. MMACHC gene mutation detection showed exon1 deletion, indicating that delExon1 is one of the causes of late onset methylmalonic aciduria, cblC type.
Texto completo:
1
Índice:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Neurology
Año:
2018
Tipo del documento:
Article