Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency

Very long chain acyl CoA dehydrogenase deficiency (VLCADD) is an inborn error in long chain fatty acid oxidation with significant variability in the severity and timing of its clinical presentation. Neonatal presentations of VLCADD have included hypoglycemia and cardiomyopathy while rhabdomyolysis i...

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Vydáno v:Mol Genet Metab Rep
Hlavní autoři: Scott Schwoerer, Jessica, Cooper, Gena, van Calcar, Sandra
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2015
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4750558/
https://ncbi.nlm.nih.gov/pubmed/26937394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.03.003
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