Wilson disease is an autosomal recessive disorder of copper metabolism. The disease is typically characterized by liver dysfunction and copper deposition in all organs including brain and kidneys. The kidney symptoms may even preseede severe liver symptoms and consist in renotubular Fanconi syndrome.
Incidence is 1:30,000.
Ocular abnormalities | |
The copper-colored ring at the periphery of the cornea, the Kayser-Fleischer ring, is pathognomonic of Wilson disease. |
1. |
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198. |
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200. |
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211. |
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212. |
Luoma LM et al. (2010) Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B. |
213. |
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214. |
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None (1999) Penicillamine: the treatment of first choice for patients with Wilson's disease. |
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None (1999) Penicillamine should not be used as initial therapy in Wilson's disease. |
218. |
None (1999) Penicillamine as a controversial treatment for Wilson's disease. |
219. |
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224. |
None (2001) Postcremation diagnosis. |
225. |
None (2001) Postcremation diagnosis. |
226. |
Olivarez L et al. (2001) Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach. |
227. |
Hedera P et al. (2002) White matter changes in Wilson disease. |
228. |
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229. |
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230. |
Wu ZY et al. (2003) Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease. |
231. |
None (1956) Penicillamine, a new oral therapy for Wilson's disease. |
232. |
Cossu P et al. (1992) Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphism. |
233. |
None (1960) A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration). |
234. |
LITIN RB et al. (1959) Hypercalciuria in hepatolenticular degeneration (Wilson's disease). |
235. |
Scheffer H et al. (1992) Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene. |
236. |
Jung KH et al. (2005) Wilson disease with an initial manifestation of polyneuropathy. |
238. |
None (2006) Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. |
239. |
Lang PA et al. (2007) Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide. |
240. |
de Bie P et al. (2007) Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. |
241. |
Mak CM et al. (2008) Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. |
242. |
Alvarez HM et al. (2010) Tetrathiomolybdate inhibits copper trafficking proteins through metal cluster formation. |
243. |
Li Y et al. (1991) Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis. A model of Wilson's disease. |
244. |
Houwen RH et al. (1990) Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14. |
245. |
Bonné-Tamir B et al. (1990) Wilson's disease in Israel: a genetic and epidemiological study. |
246. |
Danks DM et al. (1990) Wilson's disease in adults with cirrhosis but no neurological abnormalities. |
247. |
Figus A et al. (1989) Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis. |
248. |
Azizi E et al. (1989) Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease. |
249. |
None (1988) Wilson's disease: yesterday, today, and tomorrow. |
250. |
None (1988) Remembering Kinnier Wilson. |
251. |
None (1988) Memories of my father [Kinnier Wilson]. |
252. |
Yuzbasiyan-Gurkan V et al. (1988) Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees. |
253. |
Farrer LA et al. (1988) Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease. |
254. |
Bowcock AM et al. (1988) Eight closely linked loci place the Wilson disease locus within 13q14-q21. |
255. |
Polson RJ et al. (1987) Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation. |
256. |
Brewer GJ et al. (1987) Treatment of Wilson's disease. |
257. |
Menerey KA et al. (1988) The arthropathy of Wilson's disease: clinical and pathologic features. |
258. |
Bonné-Tamir B et al. (1986) Evidence for linkage between Wilson disease and esterase D in three kindreds: detection of linkage for an autosomal recessive disorder by the family study method. |
259. |
None (1978) Diagnosis of treatable Wilson's disease. |
260. |
Lingam S et al. (1987) Neurological abnormalities in Wilson's disease are reversible. |
261. |
Czaja MJ et al. (1987) Molecular studies of ceruloplasmin deficiency in Wilson's disease. |
262. |
Starosta-Rubinstein S et al. (1987) Clinical assessment of 31 patients with Wilson's disease. Correlations with structural changes on magnetic resonance imaging. |
263. |
None (1987) Cardiac Wilson's disease. |
264. |
Frydman M et al. (1985) Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. |
265. |
Sokol RJ et al. (1985) Orthotopic liver transplantation for acute fulminant Wilson disease. |
266. |
Gibbs K et al. (1979) A study of the caeruloplasmin concentrations found in 75 patients with Wilson's disease, their kinships and various control groups. |
267. |
Ross ME et al. (1985) Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings. |
268. |
Levi AJ et al. (1967) Presymptomatic Wilson's disease. |
269. |
Strickland GT et al. (1973) Wilson's disease in the United Kingdom and Taiwan. I. General characteristics of 142 cases and prognosis. II. A genetic analysis of 88 cases. |
270. |
Shokeir MH et al. (1969) Cytochrome oxidase deficiency in Wilson's disease: a suggested ceruloplasmin function. |
271. |
Wiebers DO et al. (1979) Renal stones in Wilson's disease. |
272. |
None (1971) Investigations on the nature of ceruloplasmin deficiency in the newborn. |
273. |
Sternlieb I et al. (1972) Chronic hepatitis as a first manifestation of Wilson's disease. |
274. |
Cox DW et al. (1972) A genetic study of Wilson's disease: evidence for heterogeneity. |
275. |
Slovis TL et al. (1971) The varied manifestations of Wilson's disease. |
276. |
Goldstein NP et al. (1971) Wilson's disease (hepatolenticular degeneration). Treatment with penicillamine and changes in hepatic trapping of radioactive copper. |
277. |
Frommer D et al. (1977) Kayser-Fleischer-like rings in patients without Wilson's disease. |
278. |
Whelton MJ et al. (1968) Azure lunules in Argyria. Corneal changes resembling Kayser-Fleischer Rings. |
279. |
Holtzman NA et al. (1967) Ceruloplasmin in Wilson's disease. |
280. |
Hoogenraad TU et al. (1983) 3 years of continuous oral zinc therapy in 4 patients with Wilson's disease. |
281. |
None (1983) Evaluation of segregation ratio in Wilson's disease. |
282. |
Carpenter TO et al. (1983) Hypoparathyroidism in Wilson's disease. |
283. |
Owen CA et al. (1982) Inherited copper toxicosis in Bedlington terriers: Wilson's disease (hepatolenticular degeneration). |
284. |
Factor SM et al. (1982) The cardiomyopathy of Wilson's disease. Myocardial alterations in nine cases. |
285. |
Członkowska A et al. (1981) Late onset of Wilson's disease. Report of a family. |
286. |
Dobyns WB et al. (1979) Clinical spectrum of Wilson's disease (hepatolenticular degeneration). |
287. |
Hartard C et al. (1994) Pregnancy in a patient with Wilson's disease treated with D-penicillamine and zinc sulfate. A case report and review of the literature. |
288. |
Devesa R et al. (1995) Wilson's disease treated with trientine during pregnancy. |
289. |
None (1994) Dangers of interrupting decoppering treatment in Wilson's disease. |
290. |
Wu J et al. (1994) The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. |
291. |
Brewer GJ et al. (1994) Treatment of Wilson's disease with zinc. XIII: Therapy with zinc in presymptomatic patients from the time of diagnosis. |
292. |
Thomas GR et al. (1994) Haplotype studies in Wilson disease. |
293. |
Lang CJ et al. (1993) Fatal deterioration of Wilson's disease after institution of oral zinc therapy. |
294. |
Hoppe B et al. (1993) Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease. |
295. |
Petrukhin K et al. (1993) Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. |
296. |
Kooy RF et al. (1993) Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13. |
297. |
Passwell J et al. (1977) Heterogeneity of Wilson's disease in Israel. |
298. |
Yuzbasiyan-Gurkan V et al. (1993) Linkage studies of the esterase D and retinoblastoma genes to canine copper toxicosis: a model for Wilson disease. |
299. |
van Wassenaer-van Hall HN et al. () Cranial MR in Wilson disease: abnormal white matter in extrapyramidal and pyramidal tracts. |
300. |
Guarino M et al. (1995) No neurological improvement after liver transplantation for Wilson's disease. |
301. |
Theophilos MB et al. (1996) The toxic milk mouse is a murine model of Wilson disease. |
302. |
Kuo YM et al. (1997) Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. |
303. |
Huang L et al. (1997) A novel gene involved in zinc transport is deficient in the lethal milk mouse. |
304. |
Brewer GJ et al. (1998) Treatment of Wilson's disease with zinc: XV long-term follow-up studies. |
305. |
van de Sluis BJ et al. (1999) Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16. |
306. |
Gadoth N et al. (1980) Transient external ophthalmoplegia in Wilson's disease. |
307. |
None (1996) Treatment of Wilson's disease: the historical background. |
308. |
OMIM.ORG article Omim 277900 |
309. |
Orphanet article Orphanet ID 905 |
310. |
Wikipedia article Wikipedia EN (Wilson's_disease) |