galactosemia

galactosemia

noun

a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent;typically develops shortly after birth

数据来源：WordNet

1

Objective To establish chemical diagnosis method of galactosemia and detect urine metabolites in 10 cases with galactosemia by gas chromatography-mass spectrometry .

目的应用气相色谱-质谱（GC-MS）技术检测10例半乳糖血症患儿治疗前后尿液，以建立半乳糖血症的化学诊断方法。
2

Care of 10 Galactosemia Infants

10例半乳糖血症患儿的护理
3

Conclusions The neonatal screening is effective approach of CH , PKU , galactosemia and G-6-PD deficiency confirmed early . Earlier diagnosis and treatment is of great help in disease prevention among neonates .

结论新生儿疾病筛查是CH、PKU、G-6-PD缺乏症和半乳糖血症早期诊断的有效措施之一，采取早期治疗能有效地防止患儿的智力和体格发育低下以及其他器官功能的损害。