|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
2007-4-2
|
|
pubmed:abstractText |
Primary carnitine deficiency impairs fatty acid oxidation and can result in hypoglycemia, hepatic encephalopathy, cardiomyopathy and sudden death. We diagnosed primary carnitine deficiency in six unrelated women whose unaffected infants were identified with low free carnitine levels (C0) by newborn screening using tandem mass spectrometry. Given the lifetime risk of morbidity or sudden death, identification of adult patients with primary carnitine deficiency is an added benefit of expanded newborn screening programs.
|
|
pubmed:grant |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Apr
|
|
pubmed:issn |
1096-7192
|
|
pubmed:author |
pubmed-author:BentlerKristiK,
pubmed-author:BerrySusan ASA,
pubmed-author:CederbaumStephenS,
pubmed-author:CrombezEric AEA,
pubmed-author:HeeseBryce ABA,
pubmed-author:LongoNicolaN,
pubmed-author:MaternDietrichD,
pubmed-author:McCannMarkM,
pubmed-author:PasqualiMarziaM,
pubmed-author:RinaldoPieroP,
pubmed-author:SarafoglouKikiK,
pubmed-author:SchimmentiLisa ALA,
pubmed-author:SchroerRichard JRJ,
pubmed-author:SchwahnBernd CBC,
pubmed-author:WoodTimothy CTC,
pubmed-author:di San FilippoCristina AmatCA
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
90
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
441-5
|
|
pubmed:dateRevised |
2009-11-19
|
|
pubmed:meshHeading |
pubmed-meshheading:17126586-Adult,
pubmed-meshheading:17126586-Carnitine,
pubmed-meshheading:17126586-Fatty Acids,
pubmed-meshheading:17126586-Female,
pubmed-meshheading:17126586-Genetic Testing,
pubmed-meshheading:17126586-Humans,
pubmed-meshheading:17126586-Infant,
pubmed-meshheading:17126586-Infant, Newborn,
pubmed-meshheading:17126586-Lipid Metabolism Disorders,
pubmed-meshheading:17126586-Neonatal Screening,
pubmed-meshheading:17126586-Oxidation-Reduction,
pubmed-meshheading:17126586-Tandem Mass Spectrometry
|
|
pubmed:year |
2007
|
|
pubmed:articleTitle |
Expanded newborn screening identifies maternal primary carnitine deficiency.
|
|
pubmed:affiliation |
University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA.
|
|
pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Extramural
|
