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...

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Bibliographische Detailangaben
Hauptverfasser: KARIMZADEH, Parvaneh, JAFARI, Narjes, AHMAD ABADI, Farzad, JABBEDARI, Sayena, TAGHDIRI, Mohammad-Mahdi, ALAEE, Mohammad-Reza, GHOFRANI, Mohammad, TONEKABONI, Seyed Hassan, NEJAD BIGLARI, Habibeh
Format: Artigo
Sprache:Inglês
Veröffentlicht: Shahid Beheshti University of Medical Sciences 2014
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943059/
https://ncbi.nlm.nih.gov/pubmed/24665329
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