Medium chain acyl-CoA dehydrogenase deficiency in a premature infant

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is identified by newborn screening (NBS). The natural history of MCADD includes metabolic decompensation with hypoglycemia, hyperammonemia, seizures, coma, and death. NBS enables expectant management thus severe symptoms are rare in managed pati...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Pediatr Rep
Prif Awduron: Dobrowolski, Steven F., Ghaloul-Gonzalez, Lina, Vockley, Jerry
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: PAGEPress Scientific Publications, Pavia, Italy 2017
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5733391/
https://ncbi.nlm.nih.gov/pubmed/29285339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4081/pr.2017.7045
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