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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Kowsar
2014
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| 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 |