Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia

Isobutyryl-CoA Dehydrogenase Deficiency (IBDD) is an inherited disorder of valine metabolism caused by mutations in ACAD8. Most reported patients have been diagnosed through newborn screening programmes due to elevated C4-carnitine levels and appear clinically asymptomatic. One reported non-screened...

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Detalles Bibliográficos
Autores principales: Santra, S., Macdonald, A., Preece, M.A., Olsen, R.K., Andresen, B.S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198737/
https://www.ncbi.nlm.nih.gov/pubmed/28053874
http://dx.doi.org/10.1016/j.ymgmr.2016.11.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198737/
https://www.ncbi.nlm.nih.gov/pubmed/28053874
http://dx.doi.org/10.1016/j.ymgmr.2016.11.005

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