Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay.
Yap
S
S
National Centre for Inherited Metabolic Disorders, Children's Hospital, Dublin, Ireland.
Monavari
A A
AA
Thornton
P
P
Naughten
E
E
D019735:Carbon-Carbon Ligases / Q000172:deficiency*; D002658:Developmental Disabilities / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male
D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase