Inborn errors of fatty acid oxidation in man.
Inborn errors of fatty acid oxidation in man.
复制标题
人类脂肪酸氧化的先天性错误。
DOI：
10.1016/0009-9120(91)80006-o
复制
发表时间：
1991
影响因子：
2.8
通讯作者：
Rhead,WJ
中科院分区：
文献类型：
--
作者：
Rhead,WJ
脂肪酸氧化的先天性错误最近才被发现。这些疾病的临床和生化表现，是分析，生化和酶的方法来诊断。最近的临床，生化和分子信息进行了详细总结。核黄素反应性β-氧化障碍的鉴定和表征进行了讨论。还描述了这些疾病的临床和生化筛查方法。
Inborn errors of fatty acid oxidation have only been recently identified. The clinical and biochemical presentations of these disorders are presented, as are analytic, biochemical and enzymatic approaches to their diagnosis. Recent clinical, biochemical and molecular information is summarized in detail. The identification and characterization of riboflavin-responsive β-oxidation disorders is discussed. Approaches for clinical and biochemical screening are also described for these disorders.