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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 Clinical and neuroimaging findings in glutaric aciduria type 1: A case study Eurorad Congenital Inborn Errors of Metabolism: Clinical and Imaging Pearls RadioGraphics Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report Saito 2025 JIMD Reports Wiley Online Library Unmasking Primary Carnitine Deficiency as a Mimic of Hypertrophic Cardiomyopathy ScienceDirect Carnitine Deficiency: What You Need to Know The Medical Biochemistry Page

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