Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Morbus Wilson

Morbus Wilson ist eine autosomal rezessive Kupferspeicherkrankheit. Das am schwerwiegensten befallene Organ ist die leber. Daneben kommt es zu Kupferablagerungen in vielen Organen wie auch dem Gehirn und der Niere. Die nierensymptome können bisweilen den lebersymptomen vorausgehen. Sie bestehen vor allem in einer renotubulären Fanconi-Syndrom.

Epidemiologie

Die Inzidenz beträgt 1:30.000.

Symptome

Augenveränderungen
Der Kayser-Fleischer-Kornealring, ein kupferfarbener Ring in der Peripherie der Hornhaut ist pathognomonisch für Morbus Wilson.

Gliederung

Metabolische Störungen der proximalen Tubulusfunktion
Cystinose
Fanconi-Bickel-Syndrom
Fanconi-Syndrom
Fruktoseintoleranz
Galactosämie
Glycogenspeicherkrankheit 1
Hepatorenale Tyrosinämie
Lowe-Syndrom
MELAS-Syndrom
Morbus Dent
Morbus Wilson
ATP7B

Referenzen:

1.

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2.

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138.

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141.

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142.

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143.

None (1996) Round two for liver gene therapy.

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145.

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146.

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147.

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148.

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149.

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150.

Endo F et al. (1997) Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway.

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151.

Kubo S et al. (1998) Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.

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152.

Poudrier J et al. (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

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153.

Holme E et al. (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

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154.

Prieto-Alamo MJ et al. (1998) Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

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155.

Kim SZ et al. (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.

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156.

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157.

Jorquera R et al. (2001) Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability.

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158.

Arranz JA et al. (2002) Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

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159.

None (1963) TYROSINOSIS.

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160.

FRITZELL S et al. (1964) FAMILIAL CIRRHOSIS OF THE LIVER, RENAL TUBULAR DEFECTS WITH RICKETS AND IMPAIRED TYROSINE METABOLISM.

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161.

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162.

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163.

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164.

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165.

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166.

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167.

Okada T et al. (2000) Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

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168.

Forbes JR et al. (2000) Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.

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169.

García-Villarreal L et al. (2000) High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.

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170.

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171.

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172.

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173.

Gromadzka G et al. (2005) Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

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174.

Park S et al. (2007) Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

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175.

Park HD et al. (2009) Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.

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176.

Wang LH et al. (2011) Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.

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177.

Thomas GR et al. (1995) The Wilson disease gene: spectrum of mutations and their consequences.

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178.

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179.

Thomas GR et al. (1995) Haplotypes and mutations in Wilson disease.

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180.

Sasaki N et al. (1994) The gene responsible for LEC hepatitis, located on rat chromosome 16, is the homolog to the human Wilson disease gene.

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181.

Bull PC et al. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

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182.

Tanzi RE et al. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

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183.

Figus A et al. (1995) Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

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184.

Terada K et al. (1998) Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus bearing WND cDNA.

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185.

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186.

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187.

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188.

Reed V et al. (1995) Mapping of the mouse homologue of the Wilson disease gene to mouse chromosome 8.

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189.

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190.

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191.

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192.

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193.

Shah AB et al. (1997) Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

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194.

Payne AS et al. (1998) Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.

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195.

Kusuda Y et al. (2000) Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.

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196.

None (2000) Cellular copper transport and metabolism.

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197.

Wilson DC et al. (2000) Severe hepatic Wilson's disease in preschool-aged children.

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198.

La Fontaine S et al. (2001) Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.

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199.

Loudianos G et al. (2000) Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.

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200.

Wu ZY et al. (2001) Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.

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201.

Firneisz G et al. (2002) Common mutations of ATP7B in Wilson disease patients from Hungary.

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202.

Loudianos G et al. (2002) Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.

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203.

None () Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.

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204.

Cullen LM et al. (2003) Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.

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205.

Gu YH et al. (2003) Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.

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206.

Panagiotakaki E et al. (2004) Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

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207.

Pendlebury ST et al. (2004) Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation.

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208.

Dedoussis GV et al. (2005) Wilson disease: high prevalence in a mountainous area of Crete.

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209.

Todorov T et al. (2005) Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.

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210.

Lim CM et al. (2006) Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A.

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211.

Barada K et al. (2007) Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease.

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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.

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213.

Gourdon P et al. (2011) Crystal structure of a copper-transporting PIB-type ATPase.

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214.

Chowrimootoo GF et al. (1998) Caeruloplasmin isoforms in Wilson's disease in neonates.

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215.

Ferlan-Marolt V et al. (1999) Fulminant Wilsonian hepatitis unmasked by disease progression: report of a case and review of the literature.

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216.

None (1999) Penicillamine: the treatment of first choice for patients with Wilson's disease.

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217.

None (1999) Penicillamine should not be used as initial therapy in Wilson's disease.

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218.

None (1999) Penicillamine as a controversial treatment for Wilson's disease.

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219.

Buiakova OI et al. (1999) Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.

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220.

Gow PJ et al. (2000) Diagnosis of Wilson's disease: an experience over three decades.

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221.

Gu M et al. (2000) Oxidative-phosphorylation defects in liver of patients with Wilson's disease.

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222.

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223.

Fitzgerald MA et al. (1975) Wilson's disease (hepatolenticular degeneration) of late adult onset: report of case.

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224.

None (2001) Postcremation diagnosis.

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225.

None (2001) Postcremation diagnosis.

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226.

Olivarez L et al. (2001) Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach.

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227.

Hedera P et al. (2002) White matter changes in Wilson disease.

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228.

Hlubocká Z et al. (2002) Cardiac involvement in Wilson disease.

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229.

Brewer GJ et al. (2003) Treatment of Wilson disease with ammonium tetrathiomolybdate: III. Initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy.

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230.

Wu ZY et al. (2003) Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease.

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231.

None (1956) Penicillamine, a new oral therapy for Wilson's disease.

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232.

Cossu P et al. (1992) Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphism.

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233.

None (1960) A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration).

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234.

LITIN RB et al. (1959) Hypercalciuria in hepatolenticular degeneration (Wilson's disease).

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235.

Scheffer H et al. (1992) Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene.

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236.

Jung KH et al. (2005) Wilson disease with an initial manifestation of polyneuropathy.

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237.

Brewer GJ et al. (2006) Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease.

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238.

None (2006) Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.

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239.

Lang PA et al. (2007) Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide.

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240.

de Bie P et al. (2007) Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

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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.

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242.

Alvarez HM et al. (2010) Tetrathiomolybdate inhibits copper trafficking proteins through metal cluster formation.

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243.

Li Y et al. (1991) Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis. A model of Wilson's disease.

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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.

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245.

Bonné-Tamir B et al. (1990) Wilson's disease in Israel: a genetic and epidemiological study.

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246.

Danks DM et al. (1990) Wilson's disease in adults with cirrhosis but no neurological abnormalities.

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247.

Figus A et al. (1989) Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.

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248.

Azizi E et al. (1989) Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease.

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249.

None (1988) Wilson's disease: yesterday, today, and tomorrow.

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250.

None (1988) Remembering Kinnier Wilson.

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251.

None (1988) Memories of my father [Kinnier Wilson].

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252.

Yuzbasiyan-Gurkan V et al. (1988) Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees.

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253.

Farrer LA et al. (1988) Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease.

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254.

Bowcock AM et al. (1988) Eight closely linked loci place the Wilson disease locus within 13q14-q21.

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255.

Polson RJ et al. (1987) Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation.

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256.

Brewer GJ et al. (1987) Treatment of Wilson's disease.

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257.

Menerey KA et al. (1988) The arthropathy of Wilson's disease: clinical and pathologic features.

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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.

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259.

None (1978) Diagnosis of treatable Wilson's disease.

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260.

Lingam S et al. (1987) Neurological abnormalities in Wilson's disease are reversible.

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261.

Czaja MJ et al. (1987) Molecular studies of ceruloplasmin deficiency in Wilson's disease.

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262.

Starosta-Rubinstein S et al. (1987) Clinical assessment of 31 patients with Wilson's disease. Correlations with structural changes on magnetic resonance imaging.

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263.

None (1987) Cardiac Wilson's disease.

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264.

Frydman M et al. (1985) Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.

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265.

Sokol RJ et al. (1985) Orthotopic liver transplantation for acute fulminant Wilson disease.

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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.

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267.

Ross ME et al. (1985) Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings.

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268.

Levi AJ et al. (1967) Presymptomatic Wilson's disease.

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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.

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270.

Shokeir MH et al. (1969) Cytochrome oxidase deficiency in Wilson's disease: a suggested ceruloplasmin function.

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271.

Wiebers DO et al. (1979) Renal stones in Wilson's disease.

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272.

None (1971) Investigations on the nature of ceruloplasmin deficiency in the newborn.

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273.

Sternlieb I et al. (1972) Chronic hepatitis as a first manifestation of Wilson's disease.

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274.

Cox DW et al. (1972) A genetic study of Wilson's disease: evidence for heterogeneity.

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275.

Slovis TL et al. (1971) The varied manifestations of Wilson's disease.

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276.

Goldstein NP et al. (1971) Wilson's disease (hepatolenticular degeneration). Treatment with penicillamine and changes in hepatic trapping of radioactive copper.

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277.

Frommer D et al. (1977) Kayser-Fleischer-like rings in patients without Wilson's disease.

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278.

Whelton MJ et al. (1968) Azure lunules in Argyria. Corneal changes resembling Kayser-Fleischer Rings.

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279.

Holtzman NA et al. (1967) Ceruloplasmin in Wilson's disease.

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280.

Hoogenraad TU et al. (1983) 3 years of continuous oral zinc therapy in 4 patients with Wilson's disease.

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281.

None (1983) Evaluation of segregation ratio in Wilson's disease.

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282.

Carpenter TO et al. (1983) Hypoparathyroidism in Wilson's disease.

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283.

Owen CA et al. (1982) Inherited copper toxicosis in Bedlington terriers: Wilson's disease (hepatolenticular degeneration).

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284.

Factor SM et al. (1982) The cardiomyopathy of Wilson's disease. Myocardial alterations in nine cases.

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285.

Członkowska A et al. (1981) Late onset of Wilson's disease. Report of a family.

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286.

Dobyns WB et al. (1979) Clinical spectrum of Wilson's disease (hepatolenticular degeneration).

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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.

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288.

Devesa R et al. (1995) Wilson's disease treated with trientine during pregnancy.

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289.

None (1994) Dangers of interrupting decoppering treatment in Wilson's disease.

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290.

Wu J et al. (1994) The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene.

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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.

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292.

Thomas GR et al. (1994) Haplotype studies in Wilson disease.

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293.

Lang CJ et al. (1993) Fatal deterioration of Wilson's disease after institution of oral zinc therapy.

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294.

Hoppe B et al. (1993) Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease.

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295.

Petrukhin K et al. (1993) Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.

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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.

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297.

Passwell J et al. (1977) Heterogeneity of Wilson's disease in Israel.

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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.

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299.

van Wassenaer-van Hall HN et al. () Cranial MR in Wilson disease: abnormal white matter in extrapyramidal and pyramidal tracts.

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300.

Guarino M et al. (1995) No neurological improvement after liver transplantation for Wilson's disease.

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301.

Theophilos MB et al. (1996) The toxic milk mouse is a murine model of Wilson disease.

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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.

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303.

Huang L et al. (1997) A novel gene involved in zinc transport is deficient in the lethal milk mouse.

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304.

Brewer GJ et al. (1998) Treatment of Wilson's disease with zinc: XV long-term follow-up studies.

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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.

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306.

Gadoth N et al. (1980) Transient external ophthalmoplegia in Wilson's disease.

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307.

None (1996) Treatment of Wilson's disease: the historical background.

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OMIM.ORG article

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Orphanet article

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Wikipedia Artikel

Wikipedia DE (Morbus_Wilson) external link
Update: 14. August 2020
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