Diagnosis and management of inborn errors of metabolism--an update.
作者信息
Wraith J E
机构信息
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury.
出版信息
Arch Dis Child. 1992 Oct;67(10 Spec No):1231-2. doi: 10.1136/adc.67.10_spec_no.1231.
Abstract
摘要
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本文引用的文献
1
Diagnosis and management of inborn errors of metabolism.先天性代谢缺陷的诊断与管理
Arch Dis Child. 1989 Oct;64(10 Spec No):1410-5. doi: 10.1136/adc.64.10_spec_no.1410.
2
Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations.儿童线粒体脑肌病。I. 生化与形态学研究。
J Pediatr. 1991 Aug;119(2):242-50. doi: 10.1016/s0022-3476(05)80734-6.
3
Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.
Clin Chim Acta. 1991 Nov 9;203(1):23-34. doi: 10.1016/0009-8981(91)90153-4.
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