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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1998-6-8
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pubmed:abstractText |
A 9-year-old boy had recurrent episodes of myoglobinuria and normal urinary organic acid profile. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency was detected biochemically in cultured skin fibroblasts and confirmed by Western blot analysis. The patient had a distinctive plasma fatty-acid profile, which was present even between attacks. Early diagnosis of this disorder is important because of the apparently protective effect of an appropriate dietary regimen.
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pubmed:language |
eng
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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 |
Feb
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pubmed:issn |
0960-8966
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3-6
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:9565984-Acyl-CoA Dehydrogenase, Long-Chain,
pubmed-meshheading:9565984-Cells, Cultured,
pubmed-meshheading:9565984-Child,
pubmed-meshheading:9565984-Fatty Acid Desaturases,
pubmed-meshheading:9565984-Fatty Acids, Nonesterified,
pubmed-meshheading:9565984-Fibroblasts,
pubmed-meshheading:9565984-Humans,
pubmed-meshheading:9565984-Male,
pubmed-meshheading:9565984-Mitochondrial Myopathies,
pubmed-meshheading:9565984-Muscle, Skeletal,
pubmed-meshheading:9565984-Muscle Fibers, Slow-Twitch,
pubmed-meshheading:9565984-Myoglobinuria,
pubmed-meshheading:9565984-Recurrence,
pubmed-meshheading:9565984-Skin
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pubmed:year |
1998
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pubmed:articleTitle |
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.
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pubmed:affiliation |
Department of Paediatrics, University of Genova, Italy. minettic@unige.it
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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