About: Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

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About: Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 2001

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в січні 2001 (uk) 2001 թվականին հրատարակված գիտական հոդված (hy) articolo scientifico (pubblicato il 2001) (it) im Januar 2001 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 2001 (ast) artikull shkencor i botuar më 01 janar 2001 (sq) scientific article published on 01 January 2001 (en)
publication date	wds:Q73337332-54AE7040-6E84-4CB8-B82C-54D0A127F683
publication date	2001-01-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q73337332-D2974A7D-4D0C-496F-9048-8CF33DCE8C2A
exact match	https://scigraph.springernature.com/pub.10.1203/00006450-200101000-00008
author name string	wds:Q73337332-01B34DA6-2529-4F7C-9332-B718BD8D9C99 wds:Q73337332-03B0FF73-C0F3-4767-A6CB-785E9F0E6AC3 wds:Q73337332-09EE3D5F-03F1-45FF-A57D-097056A3EB11 wds:Q73337332-1ED329AA-AD4D-43FB-8580-0A1778D85D6F wds:Q73337332-32B8B21E-35C8-4BBC-A903-6A3A98B47456 wds:Q73337332-3B41354D-B6AB-4EC7-9716-4EBF19853448 wds:Q73337332-773A714D-1582-49F3-B9F9-43C8C40A584D wds:Q73337332-7A8D1F86-18BE-4C93-BC19-2C9C45182837 wds:Q73337332-7BE61678-BA87-4DD6-8E16-98AEE0DB2EAA wds:Q73337332-89F09D6F-5E93-43F1-B323-561878C073E8 wds:Q73337332-91269B21-76C8-4248-943A-34538DEA25A6 wds:Q73337332-91F63E5F-34D2-40DF-A8A7-325FF343154B wds:Q73337332-95F1E611-59B8-4EFE-839E-BB94B403D204 wds:Q73337332-B80904F9-313A-4CE0-9921-644C85B32CBB wds:Q73337332-CC7306D5-4029-4D22-917B-CDCEC230B780 wds:Q73337332-D9915B47-BF53-4C3E-B1B5-C5FB218F3957
author name string	Babovic-Vuksanovic D Winter V Riggs C Matern D Rinaldo P Vockley J De Jong J Levy H Gregersen N Kjeldsen M Roe C Rhead WJ Dasouki M Sewell AC Smeitink J Corydon MJ
rdfs:label	Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency (en) Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency (nl) Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency (sq)
skos:prefLabel	Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency (en) Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency (nl) Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency (sq)
name	Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency (en) Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency (nl) Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency (sq)
title	wds:Q73337332-E19154C0-5C83-41DF-8EA8-7585C472B097
title	Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency (en)
page(s)	wds:Q73337332-2E024CF5-10BA-42A3-9320-C7942F07C07D
page(s)	18-23
instance of	wds:Q73337332-AAB1082D-1ED9-448D-9B68-EA1612D66F5C
instance of	scholarly article
main subject	wds:Q73337332-447D2B47-7C05-4A03-92A8-EE23728F3268 wds:Q73337332-53AD2C22-583A-4B19-8FE8-3D80E7AA8633
main subject	fatty acid beta-oxidation Acyl-CoA dehydrogenase short chain
PubMed ID	wds:Q73337332-EEA46EFE-062D-48E4-82B4-E6C829E22D59
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11134486
PubMed ID	11134486
published in	wds:Q73337332-A2FD5AC6-20C7-4962-AFBF-B44419AB21FE
published in	Pediatric Research
issue	wds:Q73337332-6D5F0480-4627-4C3E-8EBB-BB4A51EB171B
volume	wds:Q73337332-5B7AE4CE-5A84-4D19-8E7F-B3CBE1B87A2E
issue	1
volume	49
DOI	wds:Q73337332-3872899F-9F27-4468-B500-1D453DDDE0A4
DOI	http://dx.doi.org/10.1203/00006450-200101000-00008
DOI	10.1203/00006450-200101000-00008
Dimensions Publication ID	wds:Q73337332-D069A997-E4F4-42EB-B461-EFD6F7F005D6
Dimensions Publication ID	1010624908
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73337332
is cites work of	Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice. Mitochondrial fatty acid oxidation defects--remaining challenges. The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders Crystal structure of rat short chain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA: comparison with other acyl-CoA dehydrogenases Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency Protein misfolding disorders: pathogenesis and intervention Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging fro Human disorders in N-glycosylation and animal models Short-chain acyl-coenzyme A dehydrogenase deficiency

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