直链酰基辅酶A氧化酶缺乏症，表现为畸形、神经发育性自闭症样倒退和选择性脑白质营养不良模式。
Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy.
作者信息
Kurian M A, Ryan S, Besley G T N, Wanders R J A, King M D
机构信息
Department of Paediatric Neurology, The Children's University Hospital, Dublin, Ireland.
出版信息
J Inherit Metab Dis. 2004;27(1):105-8. doi: 10.1023/b:boli.0000016687.88818.6d.
Abstract
We report a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy.
摘要
我们报告了一例罕见的直链酰基辅酶A氧化酶缺乏症（麦库西克编号264470），表现为畸形、神经发育倒退和脑白质营养不良。
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