Hereditary liver disease

de Sousa M et al. (1994) Iron overload in beta 2-microglobulin-deficient mice.

Milet J et al. (2007) Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.

Hentze MW et al. (1986) Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.

Cragg SJ et al. (1985) Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes.

Roy CN et al. (2001) Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.

Halsall DJ et al. (2003) Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study.

Simon M et al. (1977) Heredity of idiopathic haemochromatosis.

Halliday JW et al. (1977) Serum-ferritin in diagnosis of haemochromatosis. A study of 43 families.

Cox TM et al. (1978) Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis.

Sargent T et al. (1979) Reduced chromium retention in patients with hemochromatosis, a possible basis of hemochromatotic diabetes.

Feller ER et al. (1977) Familial hemochromatosis. Physiologic studies in the precirrhotic stage of the disease.

Beaumont C et al. (1979) Serum ferritin as a possible marker of the hemochromatosis allele.

Cartwright GE et al. (1979) Hereditary hemochromatosis. Phenotypic expression of the disease.

None (1979) Genetic linkage and hemosiderosis.

Kravitz K et al. (1979) Genetic linkage between hereditary hemochromatosis and HLA.

Walsh CH et al. (1978) Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis.

Lipinski M et al. (1978) Idiopathic hemochromatosis: linkage with HLA.

Kühnl P et al. (1978) HLA antigens in patients with idiopathic hemochromatosis (IH).

Cartwright GE et al. (1978) Inheritance of hemochromatosis: linkage to HLA.

Lamon JM et al. (1979) Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people.

None (1979) Clinical conferences at The Johns Hopkins Hospital. Familial hemochromatosis.

Simon M et al. (1977) Heredity of idiopathic haemochromatosis: a study of 106 families.

Edwards CQ et al. (1977) Hereditary hemochromatosis. Diagnosis in siblings and children.

Rowe JW et al. (1977) Familial hemochromatosis: characteristics of the precirrhotic stage in a large kindred.

Simon M et al. (1977) Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing.

Wands JR et al. (1976) Normal serum ferritin concentrations in precirrhotic hemochromatosis.

Simon M et al. (1976) Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis.

Boretto J et al. (1992) Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis.

Yaouanq J et al. (1992) Familial screening for genetic haemochromatosis by means of DNA markers.

Kaikov Y et al. (1992) Primary hemochromatosis in children: report of three newly diagnosed cases and review of the pediatric literature.

Rabinovitz M et al. (1992) Association between heterozygous alpha 1-antitrypsin deficiency and genetic hemochromatosis.

Milman N et al. (1992) An HLA study in 74 Danish haemochromatosis patients and in 21 of their families.

Zappone E et al. (1991) Polymorphism in a ferritin H gene from chromosome 6p.

None (1992) Intrafamilial variation in hereditary hemochromatosis.

Milman N et al. (1992) Transferrin subtypes in 51 Danish patients with hereditary haemochromatosis and in 847 normal subjects.

Summers KM et al. (1991) Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis.

Dokal I et al. (1991) Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus.

Bullen JJ et al. (1991) Hemochromatosis, iron and septicemia caused by Vibrio vulnificus.

None (1991) Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases.

Jouanolle AM et al. (1990) HLA class I gene polymorphism in genetic hemochromatosis.

Lord DK et al. (1990) Molecular analysis of the human MHC class I region in hereditary haemochromatosis. A study by pulsed-field gel electrophoresis.

Dugast IJ et al. (1990) Identification of two human ferritin H genes on the short arm of chromosome 6.

Leggett BA et al. (1990) Prevalence of haemochromatosis amongst asymptomatic Australians.

Borecki IB et al. (1990) Percent transferrin saturation in segregating hemochromatosis.

Milman N et al. (1990) Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands.

Borecki IB et al. (1990) Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA.

David V et al. (1989) Ferritin H gene polymorphism in idiopathic hemochromatosis.

Summers KM et al. (1989) HLA determinants in an Australian population of hemochromatosis patients and their families.

Borecki IB et al. (1989) Segregation of genetic hemochromatosis indexed by latent capacity of transferrin.

Cragg SJ et al. (1988) HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis.

David V et al. (1986) DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family.

Meyer TE et al. (1987) The HLA linked iron loading gene in an Afrikaner population.

Lucotte G et al. (1986) Association between a 10 kb Pvu II restriction fragment of genomic DNA with the hemochromatosis gene.

Diamond T et al. (1989) Osteoporosis in hemochromatosis: iron excess, gonadal deficiency, or other factors?

McGill JR et al. (1987) Human ferritin H and L sequences lie on ten different chromosomes.

None (1988) Immune tolerance in nonhemophilic patients with antibodies to factor VIII.

Karlsson M et al. (1988) Prevalence of hemochromatosis in Finland.

Milman N et al. (1988) HLA determinants in 70 Danish patients with idiopathic haemochromatosis.

Edwards CQ et al. (1988) Prevalence of hemochromatosis among 11,065 presumably healthy blood donors.

Edwards CQ et al. (1986) Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A.

Simon M et al. (1987) A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association.

Powell LW et al. (1987) Genetic hemochromatosis and HLA linkage.

Eriksson S et al. (1986) A Swedish family with alpha 1-antitrypsin deficiency, haemochromatosis, haemoglobinopathy D and early death in liver cirrhosis.

Siemons LJ et al. (1987) Hypogonadotropic hypogonadism in hemochromatosis: recovery of reproductive function after iron depletion.

Escobar GJ et al. (1987) Primary hemochromatosis in childhood.

Niederau C et al. (1985) Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis.

MacSween RN et al. (1973) Hepatic cirrhosis: a clinico-pathological review of 520 cases.

Saddi R et al. (1974) Idiopathic haemochromatosis: an autosomal recessive disease.

Balcerzak SP et al. (1966) Idiopathic hemochromatosis. A study of three families.

Charlton RW et al. (1967) Idiopathic hemochromatosis in young subjects. Clinical, pathological, and chemical findings in four patients.

Felts JH et al. (1967) Hemochromatosis in two young sisters. Case studies and a family survey.

Cazzola M et al. (1983) Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism.

Ritter B et al. (1984) HLA as a marker of the hemochromatosis gene in Sweden.

Le Mignon L et al. (1983) An HLA-All association with the hemochromatosis allele?

Anand S et al. () Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband.

Olsson KS et al. (1984) Screening for iron overload using transferrin saturation.

Muir WA et al. (1984) Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families.

Olsson KS et al. (1983) Prevalence of iron overload in central Sweden.

Dadone MM et al. (1982) Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees.

Bassett ML et al. (1982) Idiopathic hemochromatosis: demonstration of homozygous-heterozygous mating by HLA typing of families.

None (1982) A foundation for hemochromatosis.

Edwards CQ et al. (1981) Hereditary hemochromatosis: contributions of genetic analyses.

Simon M et al. (1980) Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene.

Beaumont C et al. (1980) Hepatic and serum ferritin concentrations in patients with idiopathic hemochromatosis.

Valberg LS et al. (1980) Clinical and biochemical expression of the genetic abnormality in idiopathic hemochromatosis.

Edwards CQ et al. (1980) Homozygosity for hemochromatosis: clinical manifestations.

Cutler DJ et al. (1980) Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy.

Elzouki AN et al. (1995) Increased PiZ gene frequency for alpha 1 antitrypsin in patients with genetic haemochromatosis.

Hashimoto K et al. (1995) A gene outside the human MHC related to classical HLA class I genes.

Calandro LM et al. (1995) Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F.

Jazwinska EC et al. (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.

Barton JC et al. (1994) Blood lead concentrations in hereditary hemochromatosis.

None () A prevalence and fertility study of haemochromatosis in Saguenay-Lac-Saint-Jean.

Jazwinska EC et al. (1993) Localization of the hemochromatosis gene close to D6S105.

Deugnier YM et al. (1993) Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases.

Raha-Chowdhury R et al. (1996) A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis.

Rothenberg BE et al. (1996) beta2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism.

None (1996) Haemochromatosis: strike while the iron is hot.

Feder JN et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Jazwinska EC et al. (1996) Haemochromatosis and HLA-H.

Jouanolle AM et al. (1996) Haemochromatosis and HLA-H.

Bulaj ZJ et al. (1996) Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.

Robson KJ et al. (1997) Haemochromatosis: a gene at last?

Carella M et al. (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

Beutler E et al. (1997) HLA-H mutations in the Ashkenazi Jewish population.

Beutler E et al. (1997) HLA-H and associated proteins in patients with hemochromatosis.

None (1997) The significance of the 187G (H63D) mutation in hemochromatosis.

Beckman LE et al. () Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism.

Parkkila S et al. (1997) Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis.

None (1997) Haemochromatosis, HFE and genetic complexity.

None (1998) Targeted disruption of the HFE gene.

Zhou XY et al. (1998) HFE gene knockout produces mouse model of hereditary hemochromatosis.

Lalouel JM et al. (1985) Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information.

Piperno A et al. (1998) Heterogeneity of hemochromatosis in Italy.

Pérez Roldán F et al. (1998) Hemochromatosis presenting as acute liver failure after iron supplementation.

Lonjou C et al. (1998) Allelic association under map error and recombinational heterogeneity: a tale of two sites.

Burt MJ et al. (1998) The significance of haemochromatosis gene mutations in the general population: implications for screening.

Powell LW et al. (1998) Diagnosis of hemochromatosis.

Barton JC et al. (1998) Management of hemochromatosis. Hemochromatosis Management Working Group.

Looker AC et al. (1998) Prevalence of elevated serum transferrin saturation in adults in the United States.

Phatak PD et al. (1998) Prevalence of hereditary hemochromatosis in 16031 primary care patients.

Brittenham GM et al. (1998) Research priorities in hereditary hemochromatosis.

Waheed A et al. (1999) Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum.

Fleming RE et al. (1999) Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1.

Roy CN et al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells.

Rochette J et al. (1999) Multicentric origin of hemochromatosis gene (HFE) mutations.

Merryweather-Clarke AT et al. (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

Grove J et al. (1998) Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease.

Zoller H et al. (1999) Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis.

Olynyk JK et al. (1999) A population-based study of the clinical expression of the hemochromatosis gene.

Bahram S et al. (1999) Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism.

Willis G et al. (2000) Incidence of liver disease in people with HFE mutations.

Hickman PE et al. (2000) Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis.

Griffiths W et al. (2000) Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism.

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

Bulaj ZJ et al. (2000) Disease-related conditions in relatives of patients with hemochromatosis.

Fleming RE et al. (2001) Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis.

Brown AS et al. () Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997.

Sproule TJ et al. (2001) Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta 2-microglobulin-deficient mice.

Steinberg KK et al. (2001) Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.

Barton JC et al. () Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping.

Pozzato G et al. (2001) Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry.

Cairo G et al. (2001) Reduced serum ceruloplasmin levels in hereditary haemochromatosis.

Barton JC et al. () Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency.

Mura C et al. (2001) Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs.

de Juan D et al. (2001) HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls.

Townsend A et al. (2002) Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload.

Trinder D et al. (2002) Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse.

Hofmann WK et al. (2002) Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.

Nicolas G et al. (2003) Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.

Muckenthaler M et al. (2003) Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis.

Milman N et al. (2003) Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings.

Merryweather-Clarke AT et al. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

NUSSBAUMER T et al. (1952) [Juvenile hemochromatosis in three sisters and one brother associated with consanguinity of the parents; anatomo-clinical and genetic study of the endocrino-hepato-myocardial syndrome].

DEBRE R et al. (1958) Genetics of haemochromatosis.

BOTHWELL TH et al. (1959) A familial study in idiopathic hemochromatosis.

PERKINS KW et al. (1965) IDIOPATHIC HAEMOCHROMATOSIS IN CHILDREN; REPORT OF A FAMILY.

JOHNSON GB et al. (1962) Familial aspects of idiopathic hemochromatosis.

Roy CN et al. (2004) An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice.

None (2004) Hereditary hemochromatosis--a new look at an old disease.

Le Gac G et al. (2004) The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

Distante S et al. (2004) The origin and spread of the HFE-C282Y haemochromatosis mutation.

Lee PL et al. (2004) Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

Valenti L et al. (2004) The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis.

McDermott JH et al. (2005) Hypogonadism in hereditary hemochromatosis.

Drakesmith H et al. (2005) HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis.

Matas M et al. (2006) Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity.

Barton JC et al. (2006) Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study.

Ludwiczek S et al. (2007) Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1.

Adams PC et al. (2007) Haemochromatosis.

Le Gac G et al. (2008) Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.

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

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

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

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.

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

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.

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

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.

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

None (2001) Postcremation diagnosis.

None (2001) Postcremation diagnosis.

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

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

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

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.

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

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

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

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

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

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

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

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.

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

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

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

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.

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

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

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.

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

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

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

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

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

None (1988) Remembering Kinnier Wilson.

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

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

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

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

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

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

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

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.

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

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

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

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

None (1987) Cardiac Wilson's disease.

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

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

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.

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

Brewer GJ et al. (1994) Treatment of Wilson's disease with zinc. XIII: Therapy with zinc in presymptomatic patients from the time of diagnosis.

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

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

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

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

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.

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

Yuzbasiyan-Gurkan V et al. (1993) Linkage studies of the esterase D and retinoblastoma genes to canine copper toxicosis: a model for Wilson disease.

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

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

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

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