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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
1992-3-10
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pubmed:abstractText |
Organic acids have been determined in aqueous humour and plasma by gas chromatography-mass spectrometry in 38 cases of infant death and 4 cases of inherited metabolic disease: one had a complex fatty-acid oxidation disorder with a large urinary excretion of adipic acid, the others had a disorder of propionate catabolism with a large urinary excretion of methylmalonic acid. In each case we found in aqueous humour the abnormal metabolite present in urine. Thus aqueous humour could be a suitable material for retrospective diagnosis of inherited metabolic diseases at autopsy in sudden infant death syndrome.
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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:issn |
0141-8955
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
14
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
668-73
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pubmed:dateRevised |
2007-3-21
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pubmed:meshHeading |
pubmed-meshheading:1779612-Adipic Acids,
pubmed-meshheading:1779612-Aqueous Humor,
pubmed-meshheading:1779612-Carboxylic Acids,
pubmed-meshheading:1779612-Fatty Acids,
pubmed-meshheading:1779612-Gas Chromatography-Mass Spectrometry,
pubmed-meshheading:1779612-Humans,
pubmed-meshheading:1779612-Infant,
pubmed-meshheading:1779612-Infant, Newborn,
pubmed-meshheading:1779612-Metabolism, Inborn Errors,
pubmed-meshheading:1779612-Methylmalonic Acid,
pubmed-meshheading:1779612-Propionic Acids,
pubmed-meshheading:1779612-Retrospective Studies
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pubmed:year |
1991
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pubmed:articleTitle |
Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.
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pubmed:affiliation |
Laboratoire de Biochimie Médicale B, Hôpital Necker Enfants Malades, Paris, France.
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pubmed:publicationType |
Journal Article
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