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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2010-3-12
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pubmed:abstractText |
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare genetic disease involving fatty acid oxidation. It is due to the deficiency of one of the two electron transporters: electron transfer flavoprotein (ETF) or electron transfer flavoprotein ubiquinone oxydoreductase (ETF-QO). Symptoms begin more often in childhood or in young adulthood with a multisystemic disease with encephalopathy or muscular weakness.
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pubmed:language |
fre
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0035-3787
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pubmed:author |
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pubmed:copyrightInfo |
Copyright (c) 2009 Elsevier Masson SAS. All rights reserved.
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pubmed:issnType |
Print
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pubmed:volume |
166
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
289-94
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pubmed:meshHeading |
pubmed-meshheading:19592060-Acyl-CoA Dehydrogenases,
pubmed-meshheading:19592060-Adult,
pubmed-meshheading:19592060-Biopsy,
pubmed-meshheading:19592060-Brain Diseases, Metabolic,
pubmed-meshheading:19592060-Carnitine,
pubmed-meshheading:19592060-Coloring Agents,
pubmed-meshheading:19592060-DNA Mutational Analysis,
pubmed-meshheading:19592060-Electron Transport,
pubmed-meshheading:19592060-Electron-Transferring Flavoproteins,
pubmed-meshheading:19592060-Female,
pubmed-meshheading:19592060-Humans,
pubmed-meshheading:19592060-Lipid Metabolism, Inborn Errors,
pubmed-meshheading:19592060-Lipidoses,
pubmed-meshheading:19592060-Male,
pubmed-meshheading:19592060-Middle Aged,
pubmed-meshheading:19592060-Muscle, Skeletal,
pubmed-meshheading:19592060-Muscle Weakness,
pubmed-meshheading:19592060-Riboflavin,
pubmed-meshheading:19592060-Tandem Mass Spectrometry,
pubmed-meshheading:19592060-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
[Multiple acyl-CoA dehydrogenase deficiency (MADD): a curable cause of genetic muscular lipidosis].
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pubmed:affiliation |
Centre de référence de pathologie neuromusculaire Paris-Est, groupe hospitalier Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Paris, France.
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pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
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