继发性3-羟基二羧酸尿症酷似长链3-羟基酰基辅酶A脱氢酶缺乏症。 - Suppr

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

作者信息

Bennett M J, Weinberger M J, Sherwood W G, Burlina A B

机构信息

Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, TX 75246.

出版信息

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

DOI:10.1007/BF00711808

PMID:7807934

Abstract

摘要

相似文献

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.

Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria.

J Inherit Metab Dis. 1995;18(2):249-52. doi: 10.1007/BF00711780.

Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects.

J Pediatr Gastroenterol Nutr. 2000 Oct;31(4):448-52. doi: 10.1097/00005176-200010000-00023.

Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.

J Inherit Metab Dis. 1993;16(5):851-6. doi: 10.1007/BF00714277.

3-Hydroxydicarboxylic and 3-ketodicarboxylic aciduria in three patients: evidence for a new defect in fatty acid oxidation at the level of 3-ketoacyl-CoA thiolase.

Clin Chem. 1993 May;39(5):897-901.

3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.

Eur J Pediatr. 1991 Jan;150(3):190-5. doi: 10.1007/BF01963564.

Urinary 3-hydroxydicarboxylic acids in pathophysiology of metabolic disorders with dicarboxylic aciduria.

Metabolism. 1991 Jul;40(7):676-82. doi: 10.1016/0026-0495(91)90083-9.

Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry.

J Inherit Metab Dis. 1999 Oct;22(7):840-1. doi: 10.1023/a:1005566309942.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.

Eur J Pediatr. 1994 Oct;153(10):745-50. doi: 10.1007/BF01954492.

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.

Clin Chim Acta. 1982 Nov 24;126(1):53-67. doi: 10.1016/0009-8981(82)90361-8.

引用本文的文献

Murine deficiency of peroxisomal L-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis.

Cell Mol Life Sci. 2021 Jul;78(14):5631-5646. doi: 10.1007/s00018-021-03869-9. Epub 2021 Jun 10.

Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways.

PLoS One. 2012;7(4):e35048. doi: 10.1371/journal.pone.0035048. Epub 2012 Apr 9.

Evidence for physical association of mitochondrial fatty acid oxidation and oxidative phosphorylation complexes.

J Biol Chem. 2010 Sep 24;285(39):29834-41. doi: 10.1074/jbc.M110.139493. Epub 2010 Jul 27.

Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases.

J Inherit Metab Dis. 2008 Oct;31(5):619-29. doi: 10.1007/s10545-008-1005-8. Epub 2008 Oct 5.

Analysis of 3-hydroxydodecanedioic acid for studies of fatty acid metabolic disorders: preparation of stable isotope standards.

J Clin Lab Anal. 2002;16(2):115-20. doi: 10.1002/jcla.10033.

Compromised fatty acid oxidation in mitochondrial disorders.

J Inherit Metab Dis. 1998 Aug;21(5):613-7. doi: 10.1023/a:1005431424744.

Fatty acid oxidation in fibroblasts from patients with defects in beta-oxidation and in the respiratory chain.

J Inherit Metab Dis. 1998 Jun;21(4):409-15. doi: 10.1023/a:1005310809714.

Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease.

J Inherit Metab Dis. 1997 Jul;20(3):407-10. doi: 10.1023/a:1005354701187.

Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease.

J Inherit Metab Dis. 1996;19(2):177-80. doi: 10.1007/BF01799423.

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

Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.

J Inherit Metab Dis. 1993;16(5):851-6. doi: 10.1007/BF00714277.

Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect.

J Inherit Metab Dis. 1993;16(3):560-2. doi: 10.1007/BF00711681.

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 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.

Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase.

Lancet. 1989 Jul 1;2(8653):52-3. doi: 10.1016/s0140-6736(89)90300-0.

The L-3-hydroxyacyl-CoA dehydrogenase deficiency.

Prog Clin Biol Res. 1990;321:503-10.

Clinical and biochemical presentations in 20 cases of hydroxydicarboxylic aciduria.

Prog Clin Biol Res. 1990;321:495-502.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation.

J Inherit Metab Dis. 1990;13(3):311-4. doi: 10.1007/BF01799383.

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.

J Inherit Metab Dis. 1990;13(1):58-68. doi: 10.1007/BF01799333.

Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.

Biochem Biophys Res Commun. 1992 Mar 16;183(2):443-8. doi: 10.1016/0006-291x(92)90501-b.

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

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

作者信息

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

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

作者信息

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献