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Systematic Approach to Diagnose Inborn Neurometabolic Disorders IntechOpen 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 Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource limited settings ScienceDirect Clinico radiological phenotyping and diagnostic pathways in childhood neurometabolic disordersa practical introductory guide Biswas Translational Pediatrics MRI Findings in Encephalopathy with Primary Carnitine Deficiency: A Case Report Yilmaz 2015 Journal of Neuroimaging Wiley Online Library Unmasking Primary Carnitine Deficiency as a Mimic of Hypertrophic Cardiomyopathy ScienceDirect

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