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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...

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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

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