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...

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Detalles Bibliográficos
Autores principales: Dobrowolski, Steven F., Ghaloul-Gonzalez, Lina, Vockley, Jerry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Scientific Publications, Pavia, Italy 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733391/
https://www.ncbi.nlm.nih.gov/pubmed/29285339
http://dx.doi.org/10.4081/pr.2017.7045

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733391/
https://www.ncbi.nlm.nih.gov/pubmed/29285339
http://dx.doi.org/10.4081/pr.2017.7045

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