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