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...

詳細記述

保存先:
書誌詳細
主要な著者: KARIMZADEH, Parvaneh, JAFARI, Narjes, AHMAD ABADI, Farzad, JABBEDARI, Sayena, TAGHDIRI, Mohammad-Mahdi, ALAEE, Mohammad-Reza, GHOFRANI, Mohammad, TONEKABONI, Seyed Hassan, NEJAD BIGLARI, Habibeh
フォーマット: Artigo
言語:Inglês
出版事項: Shahid Beheshti University of Medical Sciences 2014
主題:
Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943059/
https://ncbi.nlm.nih.gov/pubmed/24665329
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料