l carnitine deficiency radiology A novel pathogenic variant in the transporter gene, SLC22A5, in association with metabolic carnitine and cardiomyopathy features | BMC Cardiovascular Disorders Frontiers | Case report: Mitochondrial
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 Unmasking Primary Carnitine Deficiency as a Mimic of Hypertrophic Cardiomyopathy ScienceDirect Effect of l carnitine supplementation on muscle cramps induced by stroke: A case report ScienceDirect MRI Findings in Encephalopathy with Primary Carnitine Deficiency: A Case Report Yilmaz 2015 Journal of Neuroimaging Wiley Online Library Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report Saito 2025 JIMD Reports Wiley Online Library
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