A Case of Carnitine Palmitoyltransferase II Deficiency in Bahrain With a Novel Mutation

Carnitine palmitoyltransferase II (CPT II) deficiency is a rare genetic metabolic disorder. Three forms of the disease have been described: the lethal neonatal form, the severe infantile hepatocardiomuscular form, and the myopathic form. We report a case of the infantile form of CPT II deficiency wi...

Descripción completa

Detalles Bibliográficos
Autores principales: Alsahlawi, Zahra, Fadhul, Zainab, Mahmood, Ali, Mohamed, Ali, Khalil, Mohamed, Aljishi, Emtithal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9288837/
https://www.ncbi.nlm.nih.gov/pubmed/35859960
http://dx.doi.org/10.7759/cureus.26043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9288837/
https://www.ncbi.nlm.nih.gov/pubmed/35859960
http://dx.doi.org/10.7759/cureus.26043

Ejemplares similares