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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Metab Rep
Prif Awduron: Scott Schwoerer, Jessica, Cooper, Gena, van Calcar, Sandra
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2015
Pynciau:
Mynediad Ar-lein: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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