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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 Brain MRI Findings as an Important Diagnostic Clue in Glutaric Aciduria Type 1 PMC Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings Scientific Reports Effect of l carnitine supplementation on muscle cramps induced by stroke: A case report ScienceDirect MR Neuroimaging in Pediatric Inborn Errors of Metabolism
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