与进行性神经疾病和部分细胞色素c氧化酶缺乏相关的乙基丙二酸尿症。 - Suppr

Suppr

超能文献

Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency.

作者信息

Lehnert W, Ruitenbeek W

机构信息

University Children's Hospital, Freiburg, Germany.

出版信息

J Inherit Metab Dis. 1993;16(3):557-9. doi: 10.1007/BF00711680.

DOI:10.1007/BF00711680

PMID:7609451

Abstract

摘要

相似文献

Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency.

J Inherit Metab Dis. 1993;16(3):557-9. doi: 10.1007/BF00711680.

Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.

J Inherit Metab Dis. 1994;17(3):301-3. doi: 10.1007/BF00711813.

Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.

J Inherit Metab Dis. 1990;13(3):337-40. doi: 10.1007/BF01799389.

Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency.

J Pediatr. 1994 Nov;125(5 Pt 1):843-4.

Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.

Pediatr Neurol. 1997 Sep;17(2):165-70. doi: 10.1016/s0887-8994(97)00048-9.

Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation.

Clin Chem. 2017 Nov;63(11):1771-1773. doi: 10.1373/clinchem.2017.279497.

A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.

Eur J Pediatr. 1993 Nov;152(11):922-4. doi: 10.1007/BF01957531.

Central nervous system malformations in ethylmalonic encephalopathy.

Am J Med Genet. 1998 Jan 23;75(3):292-6.

Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic--adipic aciduria.

J Inherit Metab Dis. 1984;7 Suppl 2:99-100. doi: 10.1007/978-94-009-5612-4_24.

Two siblings with cytochrome c oxidase deficiency.

J Inherit Metab Dis. 1983;6(3):121-2. doi: 10.1007/BF01800742.

引用本文的文献

Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy.

Iran J Child Neurol. 2017 Spring;11(2):57-60.

Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.

J Bioenerg Biomembr. 2011 Feb;43(1):31-8. doi: 10.1007/s10863-011-9324-0.

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.

J Inherit Metab Dis. 2010 Jun;33(3):211-22. doi: 10.1007/s10545-010-9086-6. Epub 2010 May 5.

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.

J Inherit Metab Dis. 2003;26(7):659-70. doi: 10.1023/b:boli.0000005659.52200.c1.

Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.

J Inherit Metab Dis. 1994;17(3):301-3. doi: 10.1007/BF00711813.

Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

J Inherit Metab Dis. 1994;17(3):283-6. doi: 10.1007/BF00711808.

Do criteria exist from urinary organic acids to distinguish beta-oxidation defects?

J Inherit Metab Dis. 1995;18(2):257-60. doi: 10.1007/BF00711782.

本文引用的文献

Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.

J Inherit Metab Dis. 1993;16(3):553-6. doi: 10.1007/BF00711679.

The urinary excretion of ethylmalonic acid: what level requires further attention?

Biochem Med. 1983 Apr;29(2):171-5. doi: 10.1016/0006-2944(83)90037-6.

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

N Engl J Med. 1984 Nov 8;311(19):1232-6. doi: 10.1056/NEJM198411083111906.

Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach.

Eur J Pediatr. 1988 Nov;148(2):92-7. doi: 10.1007/BF00445910.

Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.

J Inherit Metab Dis. 1990;13(3):337-40. doi: 10.1007/BF01799389.

New clinical phenotype of branched-chain acyl-CoA oxidation defect.

Lancet. 1991 Dec 14;338(8781):1522-3. doi: 10.1016/0140-6736(91)92338-3.

Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy.

Ann Neurol. 1992 Jan;31(1):107-9. doi: 10.1002/ana.410310120.

Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases.

J Clin Invest. 1979 Dec;64(6):1580-9. doi: 10.1172/JCI109619.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验