迟发性多种酰基辅酶A脱氢酶缺乏症：一种常被漏诊的疾病？ - Suppr

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Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?

作者信息

Köppel S, Gottschalk J, Hoffmann G F, Waterham H R, Blobel H, Kölker S

机构信息

Department of Neurology, Klinikum Nord-Heidberg, Hamburg, Germany.

出版信息

Neurology. 2006 Oct 24;67(8):1519. doi: 10.1212/01.wnl.0000240065.35635.a6.

DOI:10.1212/01.wnl.0000240065.35635.a6

PMID:17060596

Abstract

摘要

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引用本文的文献

Case report: Novel compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II.病例报告：在一名迟发性II型戊二酸血症患者中鉴定出新型复合杂合突变。

Front Neurol. 2023 Jan 27;14:1087421. doi: 10.3389/fneur.2023.1087421. eCollection 2023.

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.一个新型电子转移黄素蛋白脱氢酶（ETFDH）基因突变在 II 型戊二酸血症新生儿中的鉴定：一个中国家族的病例报告。

BMC Med Genet. 2020 May 11;21(1):98. doi: 10.1186/s12881-020-00995-2.

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.迟发性多种酰基辅酶A脱氢酶缺乏症的临床和遗传异质性

Orphanet J Rare Dis. 2014 Jul 22;9:117. doi: 10.1186/s13023-014-0117-5.

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Neuromuscul Disord. 2009 Mar;19(3):212-6. doi: 10.1016/j.nmd.2009.01.008. Epub 2009 Feb 26.

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