l carnitine deficiency radiology A novel pathogenic variant in the transporter gene, SLC22A5, in association with metabolic carnitine and cardiomyopathy features | BMC Cardiovascular Disorders Systemic Primary Carnitine Deficiency Presenting
Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report Saito 2025 JIMD Reports Wiley Online Library Primary carnitine deficiency cardiomyopathy International Journal of Cardiology 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 Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource limited settings ScienceDirect
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