两名患有乙基丙二酸尿症及特殊临床表型的意大利患者的肌肉细胞色素c氧化酶缺乏症 - Suppr

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超能文献

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

作者信息

Garavaglia B, Colamaria V, Carrara F, Tonin P, Rimoldi M, Uziel G

机构信息

Divisione di Biochimica e Genetica, Istituto Neurologico C. Besta, Milan, Italy.

出版信息

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

DOI:10.1007/BF00711813

PMID:7807937

Abstract

摘要

相似文献

Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.两名患有乙基丙二酸尿症及特殊临床表型的意大利患者的肌肉细胞色素c氧化酶缺乏症

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

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

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

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.脑病、瘀点和乙基丙二酸尿症综合征

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

Cytochrome c oxidase deficiency in muscle with dicarboxylic aciduria and renal tubular acidosis.伴有二羧酸尿症和肾小管酸中毒的肌肉细胞色素c氧化酶缺乏症。

J Child Neurol. 1990 Apr;5(2):147-52. doi: 10.1177/088307389000500216.

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.两名患者短链酰基辅酶A脱氢酶（SCAD）基因中四个新突变的鉴定：其中一个变异等位基因511C→T在普通人群中出现的频率意外地高，625G→A也是如此，二者共同导致对乙基丙二酸尿症易感。

Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619.

Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.婴儿猝死综合征与多种酰基辅酶A脱氢酶缺乏症、乙基丙二酸-己二酸尿症或全身性肉碱缺乏症。

J Pediatr. 1987 Jun;110(6):881-4. doi: 10.1016/s0022-3476(87)80401-8.

The role of methionine in ethylmalonic encephalopathy with petechiae.蛋氨酸在伴有瘀点的乙基丙二酸脑病中的作用。

Arch Neurol. 2004 Apr;61(4):570-4. doi: 10.1001/archneur.61.4.570.

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.一种伴有乙基丙二酸尿症且成纤维细胞中脂肪酸氧化正常的新综合征。

J Pediatr. 1994 Jan;124(1):79-86. doi: 10.1016/s0022-3476(94)70257-8.

引用本文的文献

Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.乙基丙二酸脑病：文献综述及两例轻度表型新病例

Neurol Sci. 2023 Nov;44(11):3827-3852. doi: 10.1007/s10072-023-06904-8. Epub 2023 Jul 17.

Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.乙基丙二酸脑病和肝移植：首例治疗患者的长期结果。

Orphanet J Rare Dis. 2021 May 19;16(1):229. doi: 10.1186/s13023-021-01867-5.

Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy.乙基丙二酸脑病的神经和血管表现

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

Severe early onset ethylmalonic encephalopathy with West syndrome.伴有韦斯特综合征的严重早发型乙基丙二酸脑病

Metab Brain Dis. 2015 Dec;30(6):1537-45. doi: 10.1007/s11011-015-9707-8. Epub 2015 Jul 21.

Ethylmalonic acid induces permeability transition in isolated brain mitochondria.乙基丙二酸可诱导离体脑线粒体发生通透性转变。

Neurotox Res. 2014 Aug;26(2):168-78. doi: 10.1007/s12640-014-9460-5. Epub 2014 Feb 21.

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.弥漫性血管损伤的形态学证据在人类和乙基丙二酸脑病的实验模型中。

J Inherit Metab Dis. 2012 May;35(3):451-8. doi: 10.1007/s10545-011-9408-3. Epub 2011 Oct 22.

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.ETHE1 相关戊二酸血症 2 型中多种代谢紊乱的来源。

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. doi: 10.1007/s10545-010-9227-y. Epub 2010 Oct 27.

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.乙基丙二酸脑病由ETHE1基因突变引起，ETHE1是一种编码线粒体基质蛋白的基因。

Am J Hum Genet. 2004 Feb;74(2):239-52. doi: 10.1086/381653. Epub 2004 Jan 19.

Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.患有乙基丙二酸脑病、线粒体病和铜缺乏表型患者的铜转运蛋白基因突变分析。

J Inherit Metab Dis. 2003;26(1):55-66. doi: 10.1023/a:1024027630589.

Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.呼吸链与丙酮酸代谢缺陷：意大利对72例患者的协作性调查。

J Inherit Metab Dis. 1996;19(2):143-8. doi: 10.1007/BF01799415.

本文引用的文献

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

Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.肌肉细胞色素c氧化酶缺乏症伴有类似多种酰基辅酶A脱氢酶缺乏症的尿有机酸谱。

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

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts.

Biochem Med. 1985 Feb;33(1):38-44. doi: 10.1016/0006-2944(85)90124-3.

Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase.

Neurology. 1986 Jul;36(7):957-63. doi: 10.1212/wnl.36.7.957.

New clinical phenotype of branched-chain acyl-CoA oxidation defect.支链酰基辅酶A氧化缺陷的新临床表型。

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

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