l carnitine deficiency radiology Infantile onset palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development - Shelihan - 2022 - JIMD Reports Cardiac function and incidence of
Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency a cardiac magnetic resonance study Scientific Reports MR Neuroimaging in Pediatric Inborn Errors of Metabolism Clinico radiological phenotyping and diagnostic pathways in childhood neurometabolic disordersa practical introductory guide Biswas Translational Pediatrics 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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