l carnitine deficiency radiology Brain MRI scans of the patient with primary and A novel pathogenic variant in

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 Frontiers Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient MR Neuroimaging in Pediatric Inborn Errors of Metabolism PMC Effect of l carnitine supplementation on muscle cramps induced by stroke: A case report ScienceDirect Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource limited settings ScienceDirect

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