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Primary carnitine deficiency cardiomyopathy International Journal of Cardiology Systematic Approach to Diagnose Inborn Neurometabolic Disorders IntechOpen Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report Cureus 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 MR Neuroimaging in Pediatric Inborn Errors of Metabolism
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