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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 Teaching NeuroImage: An 11 Month Old Girl With Glutaric Acidemia Type 1 Neurology Primary carnitine deficiency cardiomyopathy International Journal of Cardiology Congenital Inborn Errors of Metabolism: Clinical and Imaging Pearls RadioGraphics Clinico radiological phenotyping and diagnostic pathways in childhood neurometabolic disordersa practical introductory guide Biswas Translational Pediatrics MR Neuroimaging in Pediatric Inborn Errors of Metabolism
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