Diagnosis and treatment of 11 pediatric patients with type 1 glutaric aciduria 戊二酸尿症Ⅰ型11例诊断及治疗分析
Objective To investigate the clinical and biochemical profiles of the patients with lipid storage myopathy due to late onset glutaric aciduria type ⅱ. 目的探讨青少年发病的戊二酸尿症Ⅱ型迟发型的临床特征、诊断与治疗方法。
19 ( 12.4%) were glutaric aciduria type ⅱ. 戊二酸血症Ⅱ型19例(12.4%)。
Diagnosis and treatment of secondary methylmalonic aciduria due to maternal vitamin B_ ( 12) deficiency 母亲维生素B(12)缺乏导致婴儿继发性甲基丙二酸尿症的诊断与治疗分析
Conclusion GC/ MS is a very important method in diagnosing methylmalonic aciduria. Early diagnosis and adequate treatment contributes a lot to improve the mental prognosis of the patients. 结论GC/MS尿有机酸分析对本症有确诊意义,早期发现、合理治疗可有效地改善预后。
β-Aminoisobutyric Aciduria, Neurocutaneous Melanosis and Mental Deficiency β-氨基异丁酸尿症、皮肤黑色素病与智力不足附一病例报告
TWO SIBLINGS WITH PHENYLKETONURIA Clinical and biochemical diagnostic and therapeutic survey of seven patients with lipid storage myopathy due to glutaric aciduria type ⅱ 戊二酸尿症Ⅱ型所致脂肪沉积性肌肉病的诊断与治疗分析
Renal impairment in patients with methylmalonic aciduria: a review of five cases 甲基丙二酸尿症的肾脏损害五例报告