title: Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.
authors.affiliation: Department of Pediatrics, University Hospital of Nijmegen, The Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Mourmans
authors.forename: J
authors.initials: J
authors.lastname: Bakkeren
authors.forename: J
authors.initials: J
authors.lastname: de Jong
authors.forename: R
authors.initials: R
authors.lastname: Wevers
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: T
authors.initials: T
authors.lastname: Suormala
authors.forename: R
authors.initials: R
authors.lastname: Baumgartner
authors.forename: U
authors.initials: U
authors.lastname: Wendel
mesh_terms: D019735:Carbon-Carbon Ligases; D002331:Carnitine / Q000097:blood / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D007223:Infant; D008025:Ligases / Q000172:deficiency*; D008297:Male; D014631:Valerates / Q000652:urine
chemical_list: D004044:Dietary Proteins; D014631:Valerates; C002163:beta-methylcrotonylglycine; C004961:beta-hydroxyisovaleric acid; D008025:Ligases; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D002331:Carnitine; D005998:Glycine