经典型高胱氨酸尿症
ORPHA:394· ICD-10 E72.1· Homocystinuria due to cystathionine beta-synthase deficiency
- 患病率
- 1-9 / 1 000 000
- 遗传方式
- Autosomal recessive
- 发病年龄
- Adolescent, Adult, Childhood
ORPHA:394· ICD-10 E72.1· Homocystinuria due to cystathionine beta-synthase deficiency