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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1-2
|
pubmed:dateCreated |
1992-11-4
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pubmed:abstractText |
Using gas chromatography-mass spectrometry (GC-MS), with selected ion monitoring, a method for measurement of cis-4-decenoate in dried blood spots was developed. Using this assay, the concentration of cis-4-decenoate was determined in blood spots taken from a control population, seven children with medium chain acyl CoA dehydrogenase (MCAD) deficiency who were well at the time of sample collection and an asymptomatic sibling of a child with MCAD deficiency. cis-4-Decenoate was elevated, above the control range, in all the children with MCAD deficiency and in the previously undiagnosed sibling. It is concluded that measurement of cis-4-decenoate in dried blood spots provides a reliable and sensitive test for MCAD deficiency, that could be used in screening programmes.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Jul
|
pubmed:issn |
0009-8981
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:day |
31
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pubmed:volume |
209
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
61-6
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:1395039-Acyl-CoA Dehydrogenase,
pubmed-meshheading:1395039-Acyl-CoA Dehydrogenases,
pubmed-meshheading:1395039-Adolescent,
pubmed-meshheading:1395039-Child,
pubmed-meshheading:1395039-Child, Preschool,
pubmed-meshheading:1395039-Fatty Acids, Monounsaturated,
pubmed-meshheading:1395039-Female,
pubmed-meshheading:1395039-Gas Chromatography-Mass Spectrometry,
pubmed-meshheading:1395039-Humans,
pubmed-meshheading:1395039-Infant,
pubmed-meshheading:1395039-Male
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pubmed:year |
1992
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pubmed:articleTitle |
Diagnosis of medium chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in dried blood spots.
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pubmed:affiliation |
Metabolic Disease Unit, Institute of Child Health, London, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|