l carnitine deficiency radiology Brain MRI scans of the patient with primary and 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 Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency a cardiac magnetic resonance study Scientific Reports Brain MRI finding showed the T2 high, T1 low signal intensity single Download Scientific Diagram 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 Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource limited settings ScienceDirect Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development Shelihan 2022 JIMD Reports Wiley Online Library

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