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MR Neuroimaging in Pediatric Inborn Errors of Metabolism Teaching NeuroImage: An 11 Month Old Girl With Glutaric Acidemia Type 1 Neurology 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 Carnitine Deficiency: What You Need to Know The Medical Biochemistry Page Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource limited settings ScienceDirect
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