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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 features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings Scientific Reports Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) Radiology Reference Article Frontiers A randomized clinical trial to evaluate the efficacy of L carnitine L tartrate to modulate the effects of SARS CoV 2 infection 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
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