Postmortem diagnosis of very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death

Very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive long chain fatty acid β‐oxidation disorder with a variable clinical spectrum, ranging from an acute neonatal presentation with cardiac and hepatic failure to childhood or adult onset of symptoms with hepatomegaly or...

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Detalles Bibliográficos
Autores principales: Singh, Prapti, Amaro, Deirdre, Obi, Olugbemisola, Kiran, FNU, Hediger, Erin, Toler, Tomi L., Dickson, Patricia I., Grange, Dorothy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10315371/
https://www.ncbi.nlm.nih.gov/pubmed/37404675
http://dx.doi.org/10.1002/jmd2.12365

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