{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:19:58Z","timestamp":1791350398835,"version":"4.3.1"},"reference-count":36,"publisher":"Elsevier BV","issue":"7-8","license":[{"start":{"date-parts":[[2009,7,1]],"date-time":"2009-07-01T00:00:00Z","timestamp":1246406400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["La Presse M\u00e9dicale"],"published-print":{"date-parts":[[2009,7]]},"DOI":"10.1016\/j.lpm.2008.11.017","type":"journal-article","created":{"date-parts":[[2009,6,24]],"date-time":"2009-06-24T14:45:05Z","timestamp":1245854705000},"page":"1089-1098","source":"Crossref","is-referenced-by-count":22,"title":["Maladie de Wilson"],"prefix":"10.1016","volume":"38","author":[{"given":"Jean-Marc","family":"Trocello","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Chappuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Chaine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"R\u00e9my","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Debray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Charles","family":"Duclos-Vall\u00e9e","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"France","family":"Woimant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.lpm.2008.11.017_bib1","unstructured":"Haute Autorit\u00e9 de Sant\u00e9. Protocole national de diagnostic et de soins. Maladie de Wilson. 2008. http:\/\/www.has-sante.fr\/portail\/jcms\/c_640052\/ald-n-17-maladie-de-wilson (consult\u00e9 le 15 janvier 2009)."},{"key":"10.1016\/j.lpm.2008.11.017_bib2","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1002\/hep.22261","article-title":"American association for study of liver diseases (AASLD). Diagnosis and treatment of Wilson disease: an update","volume":"47","author":"Roberts","year":"2008","journal-title":"Hepatology"},{"key":"10.1016\/j.lpm.2008.11.017_bib3","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1152\/physrev.00004.2006","article-title":"Function and Regulation of Human Copper-Transporting ATPases","volume":"87","author":"Lutsenko","year":"2007","journal-title":"Physiol Rev"},{"key":"10.1016\/j.lpm.2008.11.017_bib4","doi-asserted-by":"crossref","first-page":"9640","DOI":"10.1074\/jbc.M413840200","article-title":"The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum","volume":"280","author":"Barnes","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1016\/j.lpm.2008.11.017_bib5","first-page":"457","article-title":"Exploration biologique de la maladie de Wilson","volume":"63","author":"Chappuis","year":"2005","journal-title":"Ann Biol Clin (Paris)"},{"key":"10.1016\/j.lpm.2008.11.017_bib6","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1002\/ana.20047","article-title":"Cu2+ toxicity inhibition of mitochondrial dehydrogenases in vitro and in vivo","volume":"55","author":"Sheline","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.lpm.2008.11.017_bib7","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.molcel.2006.01.033","article-title":"XIAP Is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders","volume":"21","author":"Mufti","year":"2006","journal-title":"Mol Cell"},{"key":"10.1016\/j.lpm.2008.11.017_bib8","doi-asserted-by":"crossref","first-page":"423","DOI":"10.2353\/ajpath.2006.050312","article-title":"Consequences of copper accumulation in the livers of the Atp7b\u2212\/\u2212 (Wilson disease gene) knockout mice","volume":"168","author":"Huster","year":"2006","journal-title":"Am J Pathol"},{"key":"10.1016\/j.lpm.2008.11.017_bib9","doi-asserted-by":"crossref","first-page":"8343","DOI":"10.1074\/jbc.M607496200","article-title":"High copper selectively alters lipid metabolism and cell cycle machinery in the mouse model of Wilson disease","volume":"282","author":"Huster","year":"2007","journal-title":"J Biol Chem"},{"key":"10.1016\/j.lpm.2008.11.017_bib10","doi-asserted-by":"crossref","first-page":"5729","DOI":"10.1073\/pnas.0504472103","article-title":"Structure of human Wilson protein domains 5 and 6 and their interplay with domain 4 and the copper chaperonne HAH1 in copper uptake","volume":"103","author":"Achila","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.lpm.2008.11.017_bib11","first-page":"1315","article-title":"Haplotypes and mutations in Wilson disease","volume":"56","author":"Thomas","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.lpm.2008.11.017_bib12","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1053\/j.gastro.2007.07.020","article-title":"Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B","volume":"133","author":"de Bie","year":"2007","journal-title":"Gastroenterology"},{"key":"10.1016\/j.lpm.2008.11.017_bib13","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1001\/archneur.63.7.982","article-title":"Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson disease","volume":"63","author":"Merle","year":"2006","journal-title":"Arch Neurol"},{"key":"10.1016\/j.lpm.2008.11.017_bib14","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1093\/brain\/123.3.585","article-title":"The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease","volume":"123","author":"Schiefermeier","year":"2000","journal-title":"Brain"},{"key":"10.1016\/j.lpm.2008.11.017_bib15","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/S0035-3787(06)75080-9","article-title":"Mise au point. La maladie de Wilson","volume":"162","author":"Woimant","year":"2006","journal-title":"Rev Neurol (Paris)"},{"key":"10.1016\/j.lpm.2008.11.017_bib16","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1136\/jnnp.2006.108415","article-title":"Ocular motility and Wilson's disease: a study on 34 patients","volume":"78","author":"Ingster-Moati","year":"2007","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.lpm.2008.11.017_bib17","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1176\/appi.neuropsych.20.1.81","article-title":"Psychiatric manifestations in Wilson's disease: a cross-sectional analysis","volume":"20","author":"Shanmugiah","year":"2008","journal-title":"J Neuropsychiatry Clin Neurosci"},{"key":"10.1016\/j.lpm.2008.11.017_bib18","doi-asserted-by":"crossref","first-page":"238","DOI":"10.4103\/0022-3859.41816","article-title":"Kayser-Fleischer ring","volume":"54","author":"Suvarna","year":"2008","journal-title":"J Postgrad Med"},{"key":"10.1016\/j.lpm.2008.11.017_bib19","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1002\/mds.21985","article-title":"Late onset Wilson's disease: therapeutic implications","volume":"23","author":"Cz\u0142onkowska","year":"2008","journal-title":"Mov Disord"},{"key":"10.1016\/j.lpm.2008.11.017_bib20","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/S0016-5085(97)70097-0","article-title":"Wilson's disease in patients presenting with liver disease: a diagnostic challenge","volume":"113","author":"Steindl","year":"1997","journal-title":"Gastroenterology"},{"key":"10.1016\/j.lpm.2008.11.017_bib21","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.jtemb.2007.11.001","article-title":"Non-ceruloplasmin-bound copper in routine clinical practice in different laboratories","volume":"22","author":"Twomey","year":"2008","journal-title":"J Trace Elem Med Biol"},{"key":"10.1016\/j.lpm.2008.11.017_bib22","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/S0140-6736(07)60196-2","article-title":"Wilson's disease","volume":"369","author":"Ala","year":"2007","journal-title":"Lancet"},{"key":"10.1016\/j.lpm.2008.11.017_bib23","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1080\/00365520701847044","article-title":"Usefulness of penicillamine-stimulated urinary copper excretion in the diagnosis of adult Wilson's disease","volume":"43","author":"Foruny","year":"2008","journal-title":"Scand J Gastroenterol"},{"key":"10.1016\/j.lpm.2008.11.017_bib24","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1212\/WNL.41.2_Part_1.272","article-title":"Comparison of functional and structural brain disturbances in Wilson's disease","volume":"41","author":"Grimm","year":"1991","journal-title":"Neurology."},{"key":"10.1016\/j.lpm.2008.11.017_bib25","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1212\/01.wnl.0000196482.71636.7d","article-title":"Clinical correlates of cerebral water diffusion in Wilson disease","volume":"66","author":"Favrole","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.lpm.2008.11.017_bib26","doi-asserted-by":"crossref","first-page":"4914","DOI":"10.1002\/humu.20674","article-title":"Sequence variation in the ATP-binding domain of the Wilson Disease Transporter, ATP7B affects copper transport in a yeast model system","volume":"29","author":"Hsi","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.lpm.2008.11.017_bib27","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1136\/gut.2005.087262","article-title":"Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study","volume":"56","author":"Merle","year":"2007","journal-title":"Gut"},{"key":"10.1016\/j.lpm.2008.11.017_bib28","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1001\/archneur.63.4.521","article-title":"Treatment of Wilson disease with ammonium tetrathiomolybdate\u00a0: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease","volume":"63","author":"Brewer","year":"2006","journal-title":"Arch Neurol"},{"key":"10.1016\/j.lpm.2008.11.017_bib29","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/j.jhep.2004.08.004","article-title":"Treatment of patients with hepatic failure: the difficult place of liver support systems","volume":"41","author":"Ichai","year":"2004","journal-title":"J Hepatol"},{"key":"10.1016\/j.lpm.2008.11.017_bib30","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.gcb.2008.01.033","article-title":"Long-term results of liver transplantation for Wilson's disease","volume":"32","author":"Pab\u00f3n","year":"2008","journal-title":"Gastroenterol Clin Biol"},{"key":"10.1016\/j.lpm.2008.11.017_bib31","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1002\/lt.20486","article-title":"Liver transplantation for Wilson's disease: the burden of neurological and psychiatric disorders","volume":"11","author":"Medici","year":"2005","journal-title":"Liver Transpl"},{"key":"10.1016\/j.lpm.2008.11.017_bib32","first-page":"1","article-title":"Unified Wilson's disease rating scale: a proposal for the neurological scoring of Wilson's disease patients","volume":"41","author":"Cz\u0142onkowska","year":"2007","journal-title":"Neurol Neurochir Pol"},{"key":"10.1016\/j.lpm.2008.11.017_bib33","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1093\/qjmed\/hcg114","article-title":"Abdominal malignancies in patients with Wilson's disease","volume":"96","author":"Walshe","year":"2003","journal-title":"QJM"},{"key":"10.1016\/j.lpm.2008.11.017_bib34","first-page":"29","article-title":"De la clinique \u00e0 la r\u00e9\u00e9ducation pour un trouble de l\u2019\u00e9criture dans la maladie de Wilson illustr\u00e9 par un cas clinique","volume":"490","author":"P\u00e9ron-Magnan","year":"2008","journal-title":"Kin\u00e9sith\u00e9rapie scientifique"},{"key":"10.1016\/j.lpm.2008.11.017_bib35","doi-asserted-by":"crossref","first-page":"39","DOI":"10.3917\/jdp.252.0039","article-title":"Le r\u00f4le des psychologues aupr\u00e8s de patients atteints de la maladie de Wilson","volume":"252","author":"Gravereaux","year":"2007","journal-title":"Journal des psychologues"},{"key":"10.1016\/j.lpm.2008.11.017_bib36","unstructured":"Leyendecker A, Pelosse M, Debray D, Parker S, Fox M, Tanner S et al. Registres sur la maladie de Wilson\u00a0: de la France \u00e0 l\u2019Europe. La Lettre du neurologue 2008;12 (Suppl. 3)10:14\u20135."}],"container-title":["La Presse M\u00e9dicale"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0755498209000438?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0755498209000438?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T21:27:26Z","timestamp":1545168446000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0755498209000438"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7]]},"references-count":36,"journal-issue":{"issue":"7-8","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["S0755498209000438"],"URL":"https:\/\/doi.org\/10.1016\/j.lpm.2008.11.017","relation":{},"ISSN":["0755-4982"],"issn-type":[{"value":"0755-4982","type":"print"}],"subject":[],"published":{"date-parts":[[2009,7]]}}}