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MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases

23 Aug 2017

Abstract excerpt

PURPOSE: We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD). METHODS: This retrospective study consisted of 10 MSUD patients confirmed by genetic testing. All patients underwent brain MRI. Phenotype, genotype, and areas of brain injury on MRI were retrospectively reviewed. RESULTS: Six patients (60%) had the classic form of MSUD with BCKDHB...

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PMID: 28830848
DOI: 10.5152/dir.2017.16466

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