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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
1995-2-9
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pubmed:abstractText |
We report a new method for the diagnosis of maple syrup urine disease (MSUD) from dried blood spots on newborn screening cards based on tandem mass spectrometry (MS-MS). The mean +/- SD concentration of Leu plus Ile in normal newborns was 151 +/- 47 mumol/L (n = 1096); for Val, 131 +/- 58 mumol/L (n = 791). SDs were lower when the concentrations of these amino acids were expressed relative to that of Phe. The mean ratio for Leu + Ile to Phe was 2.5 +/- 0.49; for Val to Phe, 2.18 +/- 0.51. These results compare well with values previously reported in the literature. With these criteria, samples from a collection categorized by a bacterial inhibition assay as normal or falsely positive for MSUD were normal by MS-MS [(Leu + Ile): Phe < 5.0]. Samples from confirmed MSUD patients were categorized as abnormal [(Leu+Ile): Phe > 9.0] by MS-MS.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0009-9147
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
41
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
62-8
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7813082-False Positive Reactions,
pubmed-meshheading:7813082-Humans,
pubmed-meshheading:7813082-Infant, Newborn,
pubmed-meshheading:7813082-Isoleucine,
pubmed-meshheading:7813082-Leucine,
pubmed-meshheading:7813082-Maple Syrup Urine Disease,
pubmed-meshheading:7813082-Mass Spectrometry,
pubmed-meshheading:7813082-Neonatal Screening,
pubmed-meshheading:7813082-Paper,
pubmed-meshheading:7813082-Phenylalanine,
pubmed-meshheading:7813082-Reference Values,
pubmed-meshheading:7813082-Sensitivity and Specificity,
pubmed-meshheading:7813082-Valine
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pubmed:year |
1995
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pubmed:articleTitle |
Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.
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pubmed:affiliation |
Department of Pediatrics, Duke University Medical Center, Research Triangle Park, NC 27709.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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