l carnitine deficiency radiology Brain MRI finding showed the T2 high, T1 low signal intensity single MR Neuroimaging in Pediatric Inborn

MR Neuroimaging in Pediatric Inborn Errors of Metabolism 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 Clinico radiological phenotyping and diagnostic pathways in childhood neurometabolic disordersa practical introductory guide Biswas Translational Pediatrics Systematic Approach to Diagnose Inborn Neurometabolic Disorders IntechOpen

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