自闭症儿童腺苷琥珀酸酶缺乏症的尿液检测 - Suppr

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Urine test for adenylosuccinase deficiency in autistic children.

作者信息

Maddocks J, Reed T

出版信息

Lancet. 1989 Jan 21;1(8630):158-9. doi: 10.1016/s0140-6736(89)91172-0.

DOI:10.1016/s0140-6736(89)91172-0

PMID:2563072

Abstract

摘要

相似文献

Urine test for adenylosuccinase deficiency in autistic children.自闭症儿童腺苷琥珀酸酶缺乏症的尿液检测

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Screening for inborn errors of purine synthesis.

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Adenylosuccinase deficiency.腺苷酸琥珀酸酶缺乏症。

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Autism and adenylosuccinase deficiency.

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Kinetic studies of mutant human adenylosuccinase.突变型人腺苷酸琥珀酸酶的动力学研究

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Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity.利用布拉顿-马歇尔反应检测尿液中的5'-磷酸核糖基-4-(N-琥珀酰羧酰胺)-5-氨基咪唑：鉴定腺苷酸琥珀酸裂解酶活性缺乏的患者

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Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.腺苷酸琥珀酸酶缺乏症：嘌呤核苷酸合成的一种先天性代谢缺陷病。

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Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.腺苷琥珀酸酶缺乏症：可能是一种临床特征多样且诊断不足的脑病。

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A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.

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引用本文的文献

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.通过血浆代谢组学分析诊断腺苷酸琥珀酸裂解酶缺乏症揭示了一种表型谱。

Mol Genet Metab Rep. 2016 Jul 27;8:61-6. doi: 10.1016/j.ymgmr.2016.07.007. eCollection 2016 Sep.

Adenylosuccinate lyase deficiency.腺苷酸琥珀酸裂解酶缺乏症

J Inherit Metab Dis. 2015 Mar;38(2):231-42. doi: 10.1007/s10545-014-9755-y. Epub 2014 Aug 12.

Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.对导致人类痛风和神经功能障碍的嘌呤代谢异常的分析。

Biochem J. 1998 Feb 1;329 ( Pt 3)(Pt 3):477-87. doi: 10.1042/bj3290477.

Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis.嘌呤和嘧啶代谢的遗传性缺陷：诊断的实验室方法

J Inherit Metab Dis. 1997 Jun;20(2):227-36. doi: 10.1023/a:1005360907238.

Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.嘌呤核苷酸循环的先天性代谢缺陷：腺苷酸琥珀酸酶缺乏症。

J Inherit Metab Dis. 1997 Jun;20(2):193-202. doi: 10.1023/a:1005304722259.

A new diagnostic technique for adenylosuccinate lyase deficiency.一种用于诊断腺苷酸琥珀酸裂解酶缺乏症的新诊断技术。

J Inherit Metab Dis. 1995;18(3):291-4. doi: 10.1007/BF00710417.

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