About: Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency

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About: Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency Goto Sponge NotDistinct Permalink

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scientific article published on 01 July 1993

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 1993 (uk) im Juli 1993 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunetu de 1993 (ast) scientific article published on 01 July 1993 (en)
publication date	wds:Q72890839-0D07C957-D245-4A17-BBF2-5CA885A1525B
publication date	1993-07-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q72890839-38D078BF-5F3F-49C5-9166-EEA4C7AC1DA1
exact match	https://scigraph.springernature.com/pub.10.1203/00006450-199307000-00025
author name string	wds:Q72890839-09095574-AC7A-4CBD-98F3-3EB59D0C4FB6 wds:Q72890839-94EB0B00-ACD3-4E1A-9EE4-DE1514A7926D wds:Q72890839-AAC661CF-A3B3-45DC-ABD6-6423FBF9DC5C wds:Q72890839-C988F909-C493-4CFA-A9DE-92B2D042DC2D wds:Q72890839-DA458F65-C989-4048-8C05-F31C9F4DE843
author name string	Hashimoto T Yamaguchi S Tanaka K Coates PM Indo Y
rdfs:label	Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency (en) Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency (nl)
skos:prefLabel	Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency (en) Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency (nl)
name	Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency (en) Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency (nl)
title	wds:Q72890839-03949BD9-D0EC-4A96-BBA0-FCD5C7934C99
title	Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency (en)
page(s)	wds:Q72890839-96274FFC-D8A5-4E01-98B0-9B44B3D937A6
page(s)	111-113
instance of	wds:Q72890839-E421F080-3C84-482A-B8FE-3DA20AAA31BF
instance of	scholarly article
main subject	wds:Q72890839-05C6E4A8-B29A-4F20-885A-04827363CE60
main subject	very long chain acyl-CoA dehydrogenase deficiency
PubMed ID	wds:Q72890839-DBA9C542-6803-404B-9242-8EE37BF1B82D
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8356011
PubMed ID	8356011
published in	wds:Q72890839-8494519E-DC75-491E-AC6F-7E48B3980F9E
published in	Pediatric Research
issue	wds:Q72890839-07B5ED8A-9C46-40AE-8519-F7E9B85D6C80
volume	wds:Q72890839-C389B919-7B82-4D0F-80AB-5C2CC1CB435F
issue	1
volume	34
DOI	wds:Q72890839-D244F955-1DCB-4BC1-B18B-5D8763C6E58B
DOI	http://dx.doi.org/10.1203/00006450-199307000-00025
DOI	10.1203/00006450-199307000-00025
Dimensions Publication ID	wds:Q72890839-4E6DDEA9-B27D-4711-B65B-2FED4D4116D1
Dimensions Publication ID	1051417932
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q72890839
is cites work of	Structural characterization of the mouse long-chain acyl-CoA dehydrogenase gene and 5' regulatory region Mammalian mitochondrial beta-oxidation Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients Disorders of mitochondrial fatty acyl-CoA beta-oxidation Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family Human long chain, very long chain and medium chain acyl-CoA dehydrogenases are specific for the S-enantiomer of 2- methylpentadecanoyl-CoA The changing face of disorders of fatty acid oxidation Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency Evidence for intermediate channeling in mitochondrial beta-oxidation Disorders of mitochondrial long-chain fatty acid oxidation Neonatal metabolic myopathies Mitochondrial long chain fatty acid beta-oxidation in man and mouse Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency Prolonged QT interval and lipid alterations beyond β-oxidation in very long-chain acyl-CoA dehydrogenase null mouse hearts Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management 2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidation Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt management Differential inhibitory effect of long-chain acyl-CoA esters on succinate and glutamate transport into rat liver mitochondria and its possible implications for long-chain fatty acid oxidation defects. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue with soybean oil. Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency. Partitioning of polyunsaturated fatty acid oxidation between mitochondria and peroxisomes in isolated rat hepatocytes studied by HPLC separation of oxidation products Disrupted blastocoele formation reveals a critical developmental role for long-chain acyl-CoA dehydrogenase. A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000.

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