Methylmalonic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder (An Iranian Pediatric Case Series)

OBJECTIVE: Methylmalonic acidemia is one of the inborn errors of metabolism resulting in the accumulation of acylcarnitine in blood and increased urinary methylmalonic acid excretion. This disorder can have symptoms, such as neurological and gastrointestinal manifestations, lethargy, and anorexia. M...

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主要な著者: KARIMZADEH, Parvaneh, JAFARI, Narjes, AHMAD ABADI, Farzad, JABBEDARI, Sayena, TAGHDIRI, Mohammad-Mahdi, NEMATI, Hamid, SAKET, Sasan, SHARIATMADARI, Seyed-fakhreddin, ALAEE, Mohammad-Reza, GHOFRANI, Mohammad, TONEKABONI, Seyed Hasan
フォーマット: Artigo
言語:Inglês
出版事項: Shahid Beheshti University of Medical Sciences 2013
主題:
Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943071/
https://ncbi.nlm.nih.gov/pubmed/24665309
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