l carnitine deficiency radiology Brain MRI finding showed the T2 high, T1 low signal intensity single Teaching NeuroImages: Glutaric aciduria type
Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl CoA dehydrogenase deficiency) Neurology MRI Findings in Encephalopathy with Primary Carnitine Deficiency: A Case Report Yilmaz 2015 Journal of Neuroimaging Wiley Online Library Clinico radiological phenotyping and diagnostic pathways in childhood neurometabolic disordersa practical introductory guide Biswas Translational Pediatrics A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features BMC Cardiovascular Disorders Springer Nature Link
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