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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Metab Rep
Egile Nagusiak: Scott Schwoerer, Jessica, Cooper, Gena, van Calcar, Sandra
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2015
Gaiak:
Sarrera elektronikoa: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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