l carnitine deficiency syndrome Transporter – Maternal systemic primary carnitine deficiency
Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects Genetics in Medicine The Role of l Carnitine in Mitochondria, Prevention of Metabolic Inflexibility and Disease Initiation Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency Hanington 2023 Annals of Noninvasive Electrocardiology Wiley Online Library Neonatal Screening for Primary Carnitine Deficiency: Lessons Learned from the Faroe Islands
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