l carnitine deficiency radiology Brain MRI scans of the patient with primary and Infantile onset carnitine palmitoyltransferase 2
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 Primary carnitine deficiency cardiomyopathy International Journal of Cardiology Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource limited settings ScienceDirect Systematic Approach to Diagnose Inborn Neurometabolic Disorders IntechOpen
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