l carnitine deficiency syndrome Primary systemic Maternal systemic primary carnitine deficiency
Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects Genetics in Medicine 96: Primary Carnitine Deficiency Basicmedical Key Carnitine Deficiency Syndrome DoveMed Carnitine: Genetic Variants Affecting Mitochondrial Energy and Health
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