l carnitine deficiency radiology Systemic Primary Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report - Saito - 2025 - JIMD Reports A novel pathogenic variant in

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 Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency a cardiac magnetic resonance study Scientific Reports Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings Scientific Reports Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource limited settings ScienceDirect

SKU: 35259278948 · From centoria.fr