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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 Brain MRI Findings as an Important Diagnostic Clue in Glutaric Aciduria Type 1 PMC Typical imaging fi ndings in a 14 month old girl with Leigh syndrome Download Scientific Diagram Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings Scientific Reports

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