About: 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

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About: 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 Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2004 (fr) наукова стаття, опублікована в червні 2004 (uk) im Juni 2004 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q56430900-063F27C1-7A6E-4002-8795-DED2DDFFF24D
publication date	2004-06-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q56430900-05B145A8-A312-4C7E-A904-C037BB27AD05 wds:Q56430900-16E94EDD-0B6A-455A-BCF4-B4EE5125F135 wds:Q56430900-216CB0FF-B098-405E-82D8-56A19E0BC4E3 wds:Q56430900-21E98673-3CF7-474C-B644-7FB68A70CE11 wds:Q56430900-2A398C3F-57A9-4BD5-B2D6-9D4FDDC60A09 wds:Q56430900-3729F23C-D08B-40A6-8A95-60F3C72A7758 wds:Q56430900-3E313BE6-FABC-42C8-9BB2-FD5C2EA10D89 wds:Q56430900-40D822C5-0C0F-4160-8409-BDBC99625974 wds:Q56430900-537A7878-0B47-4CBA-A925-727C8C24FA6C wds:Q56430900-5FB9BA23-32B4-4F90-B756-6A8427409D89 wds:Q56430900-64219D3E-FBBD-4F95-AEC6-E205B0EA9A3F wds:Q56430900-64BD15B1-A64C-4306-B20F-5B0C8071A0D4 wds:Q56430900-69432732-8A46-41D8-B9D0-BCC0198C3A5A wds:Q56430900-69772E7B-3FE9-4A72-B3F3-2471CCBBC981 wds:Q56430900-73DC3B58-916A-4512-AF21-F432DD08C660 wds:Q56430900-7D8568E7-81A0-4F45-9935-31A216FEE5DB wds:Q56430900-860232FE-5D98-45E2-9A1F-4AF4312E2F3F wds:Q56430900-8FA9E8B0-539B-4782-8DC3-E79366CC55D7 wds:Q56430900-A40AE0A9-184F-4719-B0F5-7F7C959185FC wds:Q56430900-ACDF06A4-95A3-4DB3-846C-66A01200168C wds:Q56430900-C69B17A6-3A87-4F57-9981-F93A1EECC9D1 wds:Q56430900-CAF98D4A-0E31-4A93-8B4E-FED189C02897 wds:Q56430900-DCDFD39A-758D-4475-BCAD-2004C091A9E8 wds:Q56430900-E09C7337-7570-42E1-8AB6-63057AD2BC1B wds:Q56430900-E3AA999F-9CF2-4AE1-9E04-44854CF25D3E wds:Q56430900-EC652FB0-5DEC-4FC3-9EB0-0CF499103286 wds:Q56430900-F9A78063-80EE-4317-AD8F-A9A148877016
cites work	Structural organization of the human short-chain acyl-CoA dehydrogenase gene Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene 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 Consequences of complexity within biological networks: robustness and health, or vulnerability and disease Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evol Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. Modifier genes convert "simple" Mendelian disorders to complex traits Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. Neonatal presentation of medium-chain acyl-CoA dehydrogenase deficiency in two families The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots Diagnosis of inborn errors of metabolism by tandem mass spectrometry
author name string	wds:Q56430900-4DBF97F1-E1A6-42BB-AD06-FFA89369A2C3 wds:Q56430900-526455C3-2855-49E7-860F-500E5969A80F wds:Q56430900-5DE76DD6-B53B-4B43-82FF-3B0DDDC41FB8 wds:Q56430900-D4C10D36-AC89-45B4-BE87-9272E28F4DA9 wds:Q56430900-D78943D2-CB0E-4BDF-9F63-3C56ED9C0D94
author name string	Niels Gregersen Stanley H Korman Alisa Gutman Rivka Brooks Thayline Sinnathamby
rdfs:label	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 (en) Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (nl)
skos:prefLabel	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 (en) Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (nl)
name	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 (en) Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (nl)
author	wds:Q56430900-474982F0-8575-46C6-A6EB-DDEDA921C554
author	Brage Storstein Andresen
title	wds:Q56430900-89AFD24A-9E01-4011-ABD1-427DE6B7CF4A
title	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 (en)
page(s)	wds:Q56430900-D998F2AC-3723-48FA-BCF0-A7C971AC08E1
page(s)	121-129
instance of	wds:Q56430900-0CE693D6-B05E-4297-8BCB-EC0B02EECF39
instance of	scholarly article
main subject	wds:Q56430900-951861F4-863B-44C9-9C76-FB5B48619AD6
main subject	homozygosity
PubMed ID	wds:Q56430900-59D70625-AA24-46AB-AABE-87CD44E6408B
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/15171999
PubMed ID	15171999
published in	wds:Q56430900-8C17F222-6B78-4635-8FC4-0F1905D081B9
published in	Molecular Genetics and Metabolism
issue	wds:Q56430900-67B18429-2EBB-4C3F-AB92-5826EA02D895
volume	wds:Q56430900-ED43876C-6026-4521-98E8-14A98D989CD9
issue	2
volume	82
DOI	wds:Q56430900-33044412-2DB9-41AB-A554-4989327E00CE
DOI	http://dx.doi.org/10.1016/J.YMGME.2004.03.002
DOI	10.1016/J.YMGME.2004.03.002
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q56430900

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