title: Direct diagnosis of Wilson disease by molecular genetics.
abstract: In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal, which made the diagnosis of Wilson disease unlikely, analysis of ATP7B gene showed disease causing mutations in all. Molecular diagnosis should be considered in children with enigmatic liver disease, especially those with features of nonalcoholic fatty liver disease.
authors.affiliation: Unità di Gastroenterologia ed Epatologia, Azienda Ospedaliera Universitaria di Pisa, Dipartimento di Medicina della Procreazione e dell'Età Evolutiva, University of Pisa, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Caprai
authors.forename: Georgios
authors.initials: G
authors.lastname: Loudianos
authors.forename: Francesco
authors.initials: F
authors.lastname: Massei
authors.forename: Laura
authors.initials: L
authors.lastname: Gori
authors.forename: Mario
authors.initials: M
authors.lastname: Lovicu
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Maggiore
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000931:Antidotes / Q000627:therapeutic use; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D000073840:Copper-Transporting ATPases; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010396:Penicillamine / Q000627:therapeutic use; D012189:Retrospective Studies; D017384:Sequence Deletion; D016896:Treatment Outcome
chemical_list: D000931:Antidotes; D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases; D010396:Penicillamine