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Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report Saito 2025 JIMD Reports Wiley Online Library Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource limited settings ScienceDirect Carnitine Deficiency: What You Need to Know The Medical Biochemistry Page 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 Brain MRI finding showed the T2 high, T1 low signal intensity single Download Scientific Diagram
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