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First Report of 3-Oxothiolase Deficiency in Iran

INTRODUCTION: Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency is a rare metabolic disorder involving ketone body metabolism characterized by acute attacks of vomiting, acidosis, ketosis, and lethargy along with some laboratory criteria including excessive excretion of 2-methyl-3-hy...

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Detalles Bibliográficos
Autores principales: Shiasi Arani, Kobra, Soltani, Babak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kowsar 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3997948/
https://www.ncbi.nlm.nih.gov/pubmed/24782902
http://dx.doi.org/10.5812/ijem.10960