Clinical and gene mutation analysis in patients with methylmalonic acidemia and homocystelnemia
- VernacularTitle:甲基丙二酸血症伴同型半胱氨酸血症患儿临床及基因突变分析
- Author:
Lianshu HAN
;
Fei WANG
;
Yuhui HU
;
Jun YE
;
Wenjuan QIU
;
Yafen ZHANG
;
Xiaolan GAO
;
Yu WANG
;
Jing JIN
;
Xuefan GU
- Publication Type:Journal Article
- Keywords: Methylmalonic acidemia; Homocysteinemia; Diagnosis; Treatment; Gene mutation
- From: Chinese Journal of Endocrinology and Metabolism 2009;25(4):405-408
- CountryChina
- Language:Chinese
- Abstract: ld have an improved outcome after reasonable treatments. The gene mutation detection suggests that 609G>A (W203X) may be the hot spot mutation of MMACHC gene in Chinese patients.