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Propionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder
OBJECTIVE: Propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and development...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Shahid Beheshti University of Medical Sciences
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943059/ https://www.ncbi.nlm.nih.gov/pubmed/24665329 |