A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings

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dc.contributor.authorAliefendioglu, Didem
dc.contributor.authorDursun, Ali
dc.contributor.authorCoskun, Turgay
dc.contributor.authorAkcoeren, Zuhal
dc.contributor.authorWanders, Ronald J. A.
dc.contributor.authorWaterham, Hans R.
dc.date.accessioned2020-06-25T17:43:37Z
dc.date.available2020-06-25T17:43:37Z
dc.date.issued2007
dc.description42nd Annual Symposium of the SSIEM -- SEP, 2005 -- Anaheim, FRANCE
dc.descriptionDursun, Ali/0000-0003-1104-9902
dc.description.abstractHere we report a newborn with VLCAD deficiency with a severe neonatal onset type who presented with hypoglycemia, cardiomyopathy, mild hepatomegaly and slight hypoalbuminemia. The patient was also homozygous for a new missense mutation (R456H). Postmortem examination of the liver, heart and skeletal muscle revealed diffuse lipid accumulation in various amounts. Mild lobular and portal fibrosis as well as severe macrovesicular steatosis were also found in the liver. The fatal course of the patient may have resulted from diffuse lipid accumulation in the liver and myocardium, which probably began during the intrauterine life with slight hypoalbuminemia as a silent marker of this process.en_US
dc.description.sponsorshipSSIEMen_US
dc.identifier.citationclosedAccessen_US
dc.identifier.doi10.1007/s00431-006-0350-6
dc.identifier.endpage1080en_US
dc.identifier.issn0340-6199
dc.identifier.issue10en_US
dc.identifier.pmid17206456
dc.identifier.scopus2-s2.0-34548160871
dc.identifier.scopusqualityQ1
dc.identifier.startpage1077en_US
dc.identifier.urihttps://doi.org10.1007/s00431-006-0350-6
dc.identifier.urihttps://hdl.handle.net/20.500.12587/3829
dc.identifier.volume166en_US
dc.identifier.wosWOS:000249018900018
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringeren_US
dc.relation.ispartofEuropean Journal Of Pediatrics
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectcardiomyopathyen_US
dc.subjecthepatopathyen_US
dc.subjecthypoketotic hypoglycemiaen_US
dc.subjectnewbornen_US
dc.subjectVLCAD deficiencyen_US
dc.titleA newborn with VLCAD deficiency Clinical, biochemical, and histopathological findingsen_US
dc.typeConference Object

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