3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening
Keywords: 3-HIVA; 3-hydroxyisovaleric acid; C5-OH; 3-hydroxyisovalerylcarnitine; 3-MCC; 3-methycrotonyl-CoA carboxylase; C5:1; 3-methylcrotonylcarnitine; 3-MCG; 3-methylcrotonylglycine; ACC; acetyl-CoA carboxylase; BC; biotin carboxylase; CT; carboxyltransferase; G