Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Wilson disease

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.

Epidemiology

Incidence is 1:30,000.

Symptoms

Ocular abnormalities
The copper-colored ring at the periphery of the cornea, the Kayser-Fleischer ring, is pathognomonic of Wilson disease.

Systematic

Metabolic disturbances of proximal tubular function
Cystinosis
Dent disease
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Fructose intolerance
Galactosemia
Glycogen storage disease 1
Hepatorenal tyrosinemia
Lowe disease
MELAS syndrome
Wilson disease
ATP7B

References:

1.

Hussain SP et al. (2000) Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases.

[^]
2.

None (1979) Abstracts of meeting presentations.

[^]
3.

Tedesco TA et al. (1975) The genetic defect in galactosemia.

[^]
4.

Kaufman F et al. (1979) Ovarian failure in galactosaemia.

[^]
5.

Litchfield WJ et al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes.

[^]
6.

Mohandas T et al. (1978) Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9.

[^]
7.

Westerveld A et al. (1978) Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridylyltransferase on chromosome 9.

[^]
8.

Mohandas T et al. (1977) Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.

[^]
9.

Mohandas T et al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

[^]
10.

Levy HL et al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia.

[^]
11.

Ibarra B et al. (1979) Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

[^]
12.

Tedesco TA et al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.

[^]
13.

Benson PF et al. (1979) Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.

[^]
14.

Wharton CH et al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.

[^]
15.

Bruns GA et al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids.

[^]
16.

Meera Khan P et al. (1978) Assignment of a human galactose-1-phosphate uridylyltransferase gene (GALT1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.

[^]
17.

Sun NC et al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.

[^]
18.

Scherz R et al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase.

[^]
19.

Hammersen G et al. (1975) Rennes-like variant of galactosemia: clinical and biochemical studies.

[^]
20.

Gitzelmann R et al. (1992) Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.

[^]
21.

Reichardt JK et al. (1992) Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

[^]
22.

Waggoner DD et al. (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases.

[^]
23.

Reichardt JK et al. (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

[^]
24.

Reichardt JK et al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

[^]
25.

Flach JE et al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

[^]
26.

Brivet M et al. (1989) Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia.

[^]
27.

Brivet M et al. (1989) Effect of lactation in a mother with galactosemia.

[^]
28.

Reichardt JK et al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.

[^]
29.

Harley JD et al. (1974) Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.

[^]
30.

Tedesco TA et al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.

[^]
31.

Sun NC et al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.

[^]
32.

Hill HZ et al. (1973) Detection of inborn errors of metabolism: galactosemia.

[^]
33.

Bergren WG et al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.

[^]
34.

Shih VE et al. (1971) Galactosemia screening of newborns in Massachusetts.

[^]
35.

Tedesco TA et al. (1971) Galactosemia: evidence for a structural gene mutation.

[^]
36.

Kelly S et al. (1972) A Duarte variant with clinical signs.

[^]
37.

Haschemian G et al. (1972) [A family with galactosemia and "Duarte variant"].

[^]
38.

Nadler HL et al. (1970) Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

[^]
39.

None (1967) Clinical variants of galactosemia.

[^]
40.

Gitzelmann R et al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.

[^]
41.

Sparkes RS et al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies.

[^]
42.

Cuatrecasas P et al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism.

[^]
43.

Vaccaro AM et al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.

[^]
44.

Shih LY et al. (1984) Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.

[^]
45.

Eriksen B et al. (1980) Human red cell galactose-1-phosphate uridylyltransferase (EC 2.7.7.12). Electrophoretically determined polymorphism in Denmark and its use in paternity cases.

[^]
46.

Lang A et al. (1980) A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate.

[^]
47.

Sparkes RS et al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.

[^]
48.

Mulcahy MT et al. (1980) Where is the gene for GALT?

[^]
49.

Sparkes RS et al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.

[^]
50.

Eydoux P et al. (1981) Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

[^]
51.

Dagna Bricarelli F et al. (1981) Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.

[^]
52.

Kelley RI et al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.

[^]
53.

Xu YK et al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.

[^]
54.

Andersen MW et al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.

[^]
55.

Andersen MW et al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.

[^]
56.

Robinson AC et al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report.

[^]
57.

Garcia-Cruz D et al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.

[^]
58.

Urbanowski JC et al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant.

[^]
59.

Ashino J et al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.

[^]
60.

Lin HC et al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.

[^]
61.

Elsas LJ et al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

[^]
62.

Elsas LJ et al. (1994) A common mutation associated with the Duarte galactosemia allele.

[^]
63.

Schweitzer S et al. (1993) Long-term outcome in 134 patients with galactosaemia.

[^]
64.

Reichardt JK et al. (1993) Molecular characterization of the H319Q galactosemia mutation.

[^]
65.

Lai K et al. (1996) A prevalent mutation for galactosemia among black Americans.

[^]
66.

Elsevier JP et al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.

[^]
67.

Ninfali P et al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

[^]
68.

Podskarbi T et al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

[^]
69.

Elsevier JP et al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.

[^]
70.

Levy HL et al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia.

[^]
71.

Langley SD et al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.

[^]
72.

Greber-Platzer S et al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

[^]
73.

Magrangeas F et al. (1998) Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells. Implication for the production of multidomain proteins during evolution.

[^]
74.

Tyfield L et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

[^]
75.

Kozák L et al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.

[^]
76.

Murphy M et al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

[^]
77.

de Jongh S et al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia.

[^]
78.

Ruiz M et al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia.

[^]
79.

Elsas LJ et al. () The molecular biology of galactosemia.

[^]
80.

Elsas LJ et al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.

[^]
81.

Trbusek M et al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.

[^]
82.

Suzuki M et al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.

[^]
83.

Webb AL et al. (2003) Verbal dyspraxia and galactosemia.

[^]
84.

DAWSON SP et al. (1960) Galactosemia. A genetic study of four generations by enzyme assay.

[^]
85.

WALKER FA et al. (1962) Galactosemia: a study of twenty-seven kindreds in North America.

[^]
86.

BEUTLER E et al. (1965) A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.

[^]
87.

Segal S et al. (2006) Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose.

[^]
88.

None (2006) Classical galactosaemia revisited.

[^]
89.

Feillet F et al. (2008) Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

[^]
90.

Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

[^]
91.

Tang M et al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

[^]
92.

None (1979) Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse.

[^]
93.

Weinberg AG et al. (1976) The occurrence of hepatoma in the chronic form of hereditary tyrosinemia.

[^]
94.

Fisch RO et al. (1978) Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia.

[^]
95.

Lindblad B et al. (1977) On the enzymic defects in hereditary tyrosinemia.

[^]
96.

Holme E et al. (1992) Neonatal screen for hereditary tyrosinaemia type I.

[^]
97.

Lindstedt S et al. (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.

[^]
98.

Phaneuf D et al. (1992) Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

[^]
99.

Sokal EM et al. (1992) Liver transplantation for hereditary tyrosinemia--early transplantation following the patient's stabilization.

[^]
100.

Kvittingen EA et al. (1992) Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.

[^]
101.

Phaneuf D et al. (1991) Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.

[^]
102.

Mitchell G et al. (1990) Neurologic crises in hereditary tyrosinemia.

[^]
103.

De Braekeleer M et al. (1990) Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.

[^]
104.

Tanguay RM et al. (1990) Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).

[^]
105.

Russo P et al. (1990) Visceral pathology of hereditary tyrosinemia type I.

[^]
106.

Laberge C et al. (1990) Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.

[^]
107.

Paradis K et al. (1990) Liver transplantation for hereditary tyrosinemia: the Quebec experience.

[^]
108.

Dehner LP et al. (1989) Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver.

[^]
109.

van Spronsen FJ et al. (1989) Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem.

[^]
110.

Tuchman M et al. (1985) Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I.

[^]
111.

Holme E et al. (1985) Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.

[^]
112.

Pettit BR et al. (1985) Early prenatal diagnosis of hereditary tyrosinaemia.

[^]
113.

Kvittingen EA et al. (1986) Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction.

[^]
114.

Kvittingen EA et al. (1986) Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.

[^]
115.

Kvittingen EA et al. (1985) Deficiency of fumarylacetoacetase without hereditary tyrosinemia.

[^]
116.

Whelan DT et al. (1974) Microassay of tyrosine-amino transferase and p-hydroxyphenylpyruvic acid oxidase in mammalian liver and patients with hereditary tyrosinemia.

[^]
117.

Gaull GE et al. (1968) Significance of hypermethionaemia in acute tyrosinosis.

[^]
118.

None (1967) The enzymatic deficiency in tyrosinemia.

[^]
119.

Gaull GE et al. (1970) Biochemical observations on so-called hereditary tyrosinemia.

[^]
120.

Kang ES et al. (1970) Hereditary tyrosinemia and abnormal pyrrole metabolism.

[^]
121.

None (1969) Hereditary tyrosinemia in a French Canadian isolate.

[^]
122.

Halvorsen S et al. (1966) Tyrosinosis. A study of 6 cases.

[^]
123.

Scriver CR et al. (1967) Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate.

[^]
124.

Hostetter MK et al. (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia.

[^]
125.

Gartner JC et al. (1984) Orthotopic liver transplantation in children: two-year experience with 47 patients.

[^]
126.

Kvittingen EA et al. (1983) Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.

[^]
127.

Gagné R et al. (1982) Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid.

[^]
128.

Kvittingen EA et al. (1981) Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.

[^]
129.

Malpuech G et al. (1981) [Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)].

[^]
130.

Grompe M et al. (1995) Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I.

[^]
131.

Hahn SH et al. (1995) Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

[^]
132.

Laine J et al. (1995) The nephropathy of type I tyrosinemia after liver transplantation.

[^]
133.

St-Louis M et al. (1995) Two novel mutations involved in hereditary tyrosinemia type I.

[^]
134.

Demers SI et al. (1994) Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

[^]
135.

Kvittingen EA et al. (1994) Self-induced correction of the genetic defect in tyrosinemia type I.

[^]
136.

Rootwelt H et al. (1994) Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

[^]
137.

Grompe M et al. (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.

[^]
138.

St-Louis M et al. (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

[^]
139.

Grompe M et al. (1993) Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.

[^]
140.

Grompe M et al. (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

[^]
141.

Labelle Y et al. (1993) Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.

[^]
142.

Kvittingen EA et al. (1993) Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

[^]
143.

None (1996) Round two for liver gene therapy.

[^]
144.

Overturf K et al. (1996) Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I.

[^]
145.

Timmers C et al. (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.

[^]
146.

St-Louis M et al. (1996) Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.

[^]
147.

Rootwelt H et al. (1996) Fumarylacetoacetase mutations in tyrosinaemia type I.

[^]
148.

Overturf K et al. (1997) Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I.

[^]
149.

St-Louis M et al. (1997) Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.

[^]
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.

[^]
151.

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

[^]
152.

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

[^]
153.

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

[^]
154.

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

[^]
155.

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

[^]
156.

Aponte JL et al. (2001) Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.

[^]
157.

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

[^]
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.

[^]
159.

None (1963) TYROSINOSIS.

[^]
160.

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

[^]
161.

HALVORSEN S et al. (1964) STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET.

[^]
162.

GENTZ J et al. (1965) TYROSINEMIA.

[^]
163.

PERRY TL et al. (1965) HYPERMETHIONINEMIA: A METABOLIC DISORDER ASSOCIATED WITH CIRRHOSIS, ISLET CELL HYPERPLASIA, AND RENAL TUBULAR DEGENERATION.

[^]
164.

Bliksrud YT et al. (2005) Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.

[^]
165.

Wuestefeld T et al. (2013) A Direct in vivo RNAi screen identifies MKK4 as a key regulator of liver regeneration.

[^]
166.

Loudianos G et al. (1999) Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

[^]
167.

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

[^]
168.

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

[^]
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.

[^]
170.

Takeshita Y et al. (2002) Two families with Wilson disease in which siblings showed different phenotypes.

[^]
171.

Margarit E et al. (2005) Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.

[^]
172.

Gupta A et al. (2005) Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.

[^]
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.

[^]
174.

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

[^]
175.

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

[^]
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.

[^]
177.

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

[^]
178.

Thomas GR et al. (1995) Wilson disease in Iceland: a clinical and genetic study.

[^]
179.

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

[^]
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.

[^]
181.

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

[^]
182.

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

[^]
183.

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

[^]
184.

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

[^]
185.

Kim EK et al. (1998) Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.

[^]
186.

Loudianos G et al. (1998) Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

[^]
187.

Duc HH et al. () His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.

[^]
188.

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

[^]
189.

Houwen RH et al. (1995) H714Q mutation in Wilson disease is associated with late, neurological presentation.

[^]
190.

Dijkstra M et al. (1995) Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes.

[^]
191.

Petrukhin K et al. (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.

[^]
192.

Yang XL et al. (1997) Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.

[^]
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.

[^]
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.

[^]
195.

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

[^]
196.

None (2000) Cellular copper transport and metabolism.

[^]
197.

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

[^]
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.

[^]
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.

[^]
200.

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

[^]
201.

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

[^]
202.

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

[^]
203.

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

[^]
204.

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

[^]
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.

[^]
206.

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

[^]
207.

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

[^]
208.

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

[^]
209.

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

[^]
210.

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

[^]
211.

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

[^]
212.

Luoma LM et al. (2010) Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

[^]
213.

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

[^]
214.

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

[^]
215.

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

[^]
216.

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

[^]
217.

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.

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.

[^]
220.

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

[^]
221.

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

[^]
222.

Firneisz G et al. (2001) Postcremation diagnosis from an electric shaver.

[^]
223.

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

[^]
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.

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

[^]
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.

[^]
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.

[^]
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.

[^]
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) [^]
Update: April 29, 2019