Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2009-8-3
pubmed:abstractText
Newborn screening for medium- and very long-chain acyl-CoA dehydrogenase (MCAD and VLCAD, respectively) deficiency, using acylcarnitine profiling with tandem mass spectrometry, has increased the number of patients with fatty acid oxidation disorders due to the identification of additional milder, and so far silent, phenotypes. However, especially for VLCADD, the acylcarnitine profile can not constitute the sole parameter in order to reliably confirm disease. Therefore, we developed a new liquid chromatography tandem mass spectrometry (LC-MS/MS) method to rapidly determine both MCAD- and/or VLCAD-activity in human lymphocytes in order to confirm diagnosis.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-10407780, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-11349232, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-12777559, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-15832312, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-15902557, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-1594328, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-16443431, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-16860141, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-16950999, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-1737072, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-1873916, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-18838415, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-19157942, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-3651405, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-4083485, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-7059177, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-9158144, http://linkedlifedata.com/resource/pubmed/commentcorrection/19649258-9365395
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1932-6203
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
e6449
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.
pubmed:affiliation
Department of General Pediatrics, Heinrich- Heine -University, Düsseldorf, Germany. frank.terveld@uni-duesseldorf.de
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Validation Studies