title: Inborn error of metabolism.
authors.forename: B
authors.initials: B
authors.lastname: Konforti
mesh_terms: D000474:Alkaptonuria / Q000201:enzymology / Q000235:genetics* / Q000266:history* / Q000652:urine; D003001:Cloning, Molecular; D018360:Crystallography, X-Ray; D049308:Dioxygenases; D005808:Genes, Recessive / Q000235:genetics*; D049673:History, 20th Century; D050560:Homogentisate 1,2-Dioxygenase; D006801:Humans; D009154:Mutation / Q000235:genetics; D009613:Nobel Prize; D010105:Oxygenases / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D011487:Protein Conformation
chemical_list: D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase