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rdf:type |
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lifeskim:mentions |
umls-concept:C0008508,
umls-concept:C0010453,
umls-concept:C0033053,
umls-concept:C0036667,
umls-concept:C0205474,
umls-concept:C0282528,
umls-concept:C0312418,
umls-concept:C0449864,
umls-concept:C0936012,
umls-concept:C1506979,
umls-concept:C1511790,
umls-concept:C1521991
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pubmed:issue |
1
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pubmed:dateCreated |
2005-1-6
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pubmed:abstractText |
The prenatal diagnosis of peroxisomal disorders is most often performed by biochemical analysis of cultured chorionic villus sample (CVS) or amniocytes. We aimed to (a) highlight the risk of maternal cell contamination (MCC) in biochemical prenatal diagnosis, (b) establish the threshold of these biochemical assays to MCC, and (c) document the sensitivity of PCR based genotyping of microsatellites for the detection of MCC in prenatal diagnosis of inborn errors by biochemical analysis.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-10073906,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-10327148,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-10405451,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-11216898,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-11992258,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-12001201,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-1521344,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-1523203,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-1770790,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-2606482,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-4047762,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-6104322,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-6810332,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-7424915,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-7541833,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-7702836,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15635073-9894883
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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:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1468-6244
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
38-44
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:15635073-Cell Culture Techniques,
pubmed-meshheading:15635073-Chorionic Villi,
pubmed-meshheading:15635073-Chorionic Villi Sampling,
pubmed-meshheading:15635073-Equipment Contamination,
pubmed-meshheading:15635073-Female,
pubmed-meshheading:15635073-Genotype,
pubmed-meshheading:15635073-Humans,
pubmed-meshheading:15635073-Microsatellite Repeats,
pubmed-meshheading:15635073-Peroxisomal Disorders,
pubmed-meshheading:15635073-Polymerase Chain Reaction,
pubmed-meshheading:15635073-Pregnancy,
pubmed-meshheading:15635073-Prenatal Diagnosis,
pubmed-meshheading:15635073-Reproducibility of Results,
pubmed-meshheading:15635073-Sensitivity and Specificity
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pubmed:year |
2005
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pubmed:articleTitle |
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection.
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pubmed:affiliation |
The Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. steinbergs@kennedykrieger.org
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, N.I.H., Extramural
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