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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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書目詳細資料
發表在:Mol Genet Metab Rep
Main Authors: Scott Schwoerer, Jessica, Cooper, Gena, van Calcar, Sandra
格式: Artigo
語言:Inglês
出版: Elsevier 2015
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在線閱讀: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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