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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Shahid Beheshti University of Medical Sciences
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045933/ https://www.ncbi.nlm.nih.gov/pubmed/30026775 |