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A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature

Beta-ketothiolase deficiency is a rare autosomal recessive disorder characterized by an inborn error of isoleucine catabolism and affecting ketone body metabolism. Clinical features characterized by intermittent keto acidotic episodes are associated with clinical signs and symptoms of toxic encephal...

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Detalles Bibliográficos
Autores principales:	VAKILI, Rahim, HASHEMIAN, Somayyeh
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Shahid Beheshti University of Medical Sciences 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045933/ https://www.ncbi.nlm.nih.gov/pubmed/30026775

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