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Investigation of alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH) levels in patients with partial biotinidase deficiency
Karaca, MeryemBackground: Biotinidase deficiency is a treatable metabolic disease that can be seen with various neurological and dermatological complications. Biomarkers such as alanine, propionylcarnitine (C3) and 3-hydroxyisovaler ...