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None (1967) The enzymatic deficiency in tyrosinemia.

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None (1996) Round two for liver gene therapy.

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None (1963) TYROSINOSIS.

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None (2000) Cellular copper transport and metabolism.

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

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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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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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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.

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None (2001) Postcremation diagnosis.

None (2001) Postcremation diagnosis.

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

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

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

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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.

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.

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

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

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.

Burchell A et al. (1990) Diagnosis of a novel glycogen storage disease: type 1aSP.

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

Lei KJ et al. (1995) Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

Kajihara S et al. (1995) Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.

Brody LC et al. (1995) Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17.

Nakai K et al. (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes.

Lei KJ et al. (1994) Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Shelly LL et al. (1993) Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.

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

Lee WJ et al. (1996) Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.

Weston BW et al. (2000) Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.

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