Mutation Analysis of Indian Patients with Urea Cycle Defects

被引：8

作者：

Gupta, Neerja ^{[1
]}

Kabra, Madhulika ^{[1
]}

Haeberle, J. ^{[2
]}

机构：

[1] All India Inst Med Sci, Genet Unit, Dept Pediat, New Delhi 110029, India

[2] Univ Childrens Hosp, Div Metab, Kinderspital, CH-8032 Zurich, Switzerland

来源：

INDIAN PEDIATRICS | 2012年 / 49卷 / 07期

关键词：

Citrullinemia; Inborn; errors of metabolism; Ornithine transcarbomylase deficiency;

D O I：

10.1007/s13312-012-0100-y

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Molecular testing for a specific metabolic disorder remains the gold standard due to its high specificity and sensitivity and possibility of accurate prenatal diagnosis. We report four cases of urea cycle defect where mutational analysis of the Involved genes was performed and subsequently, prenatal diagnosis could be offered to one of the family.

引用

页码：585 / 586

页数：2