-
1
-
-
84963072124
-
Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver
-
Wilson SAK (1912) Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver. Brain 34: 295-509
-
(1912)
Brain
, vol.34
, pp. 295-509
-
-
Wilson, S.A.K.1
-
2
-
-
0001435653
-
The copper and iron content of brain and liver in the normal and in hepatolenticular degeneration
-
Cunning JN (1948) The copper and iron content of brain and liver in the normal and in hepatolenticular degeneration. Brain 71: 410-415
-
(1948)
Brain
, vol.71
, pp. 410-415
-
-
Cunning, J.N.1
-
3
-
-
0015968328
-
Defective biliary excretion of copper in Wilson's disease
-
Frommer DJ (1974) Defective biliary excretion of copper in Wilson's disease. Gut 15: 125-129
-
(1974)
Gut
, vol.15
, pp. 125-129
-
-
Frommer, D.J.1
-
4
-
-
0000852301
-
Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease)
-
Scheinberg DJ and Gitlin D (1952) Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease) Science 116: 484-485
-
(1952)
Science
, vol.116
, pp. 484-485
-
-
Scheinberg, D.J.1
Gitlin, D.2
-
5
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
Bull PC et al. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5: 327-337
-
(1993)
Nat Genet
, vol.5
, pp. 327-337
-
-
Bull, P.C.1
-
6
-
-
0032835347
-
Molecular characterization of Wilson disease in the Sardinian population - Evidence of a founder effect
-
Loudianos G et al. (1999) Molecular characterization of Wilson disease in the Sardinian population - evidence of a founder effect. Hum Mutat 14: 294-303
-
(1999)
Hum Mutat
, vol.14
, pp. 294-303
-
-
Loudianos, G.1
-
7
-
-
0027431996
-
Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
-
Yamaguchi Y et al. (1993) Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Common 197: 271-277
-
(1993)
Biochem Biophys Res Common
, vol.197
, pp. 271-277
-
-
Yamaguchi, Y.1
-
8
-
-
0342372868
-
Assignment of the gene for Wilson disease to chromosome 13: Linkage to the esterase D locus
-
Frydman M et al. (1985) Assignment of the gene for Wilson disease to chromosome 13: Linkage to the esterase D locus. Proc Natl Acad Sc USA 82: 1891-1892
-
(1985)
Proc Natl Acad Sc USA
, vol.82
, pp. 1891-1892
-
-
Frydman, M.1
-
9
-
-
0028820678
-
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
-
Figus A et al. (1995) Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet 57: 1318-1324
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1318-1324
-
-
Figus, A.1
-
10
-
-
33846999274
-
The Human Gene Mutation Database
-
Institute of Medical Genetics, Cardiff (accessed June 3)
-
The Human Gene Mutation Database, Institute of Medical Genetics, Cardiff [http://uwcmml1s.uwcm.ac.uk/uwcm/mg/search/120494.html] (accessed June 3 2006)
-
(2006)
-
-
-
11
-
-
33747775716
-
Wilson Disease Mutation Database
-
Department of Medical Genetics, University of Alberta (accessed June 3)
-
Wilson Disease Mutation Database, Department of Medical Genetics, University of Alberta [http://www.uofa-medical-genetics.org/wilson/ index.php] (accessed June 3 2006)
-
(2006)
-
-
-
12
-
-
0028869945
-
The Wilson disease gene: Spectrum of mutations and their consequences
-
Thomas GR et al. (1995) The Wilson disease gene: Spectrum of mutations and their consequences. Nat Genet 9: 210-217
-
(1995)
Nat Genet
, vol.9
, pp. 210-217
-
-
Thomas, G.R.1
-
13
-
-
0345480774
-
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
-
Kim EK et al. (1998) Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat 11: 275-278
-
(1998)
Hum Mutat
, vol.11
, pp. 275-278
-
-
Kim, E.K.1
-
14
-
-
33646827879
-
Molecular pathogenesis of Wilson Disease: Haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients
-
Gupta A et al. (2005) Molecular pathogenesis of Wilson Disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. Hum Genet 118: 49-57
-
(2005)
Hum Genet
, vol.118
, pp. 49-57
-
-
Gupta, A.1
-
15
-
-
0027427695
-
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene
-
Petrukhin K et al. (1993) Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 5: 338-343
-
(1993)
Nat Genet
, vol.5
, pp. 338-343
-
-
Petrukhin, K.1
-
16
-
-
0033975764
-
The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease
-
Schiefermeier M et al. (2000) The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease. Brain 123: 585-590
-
(2000)
Brain
, vol.123
, pp. 585-590
-
-
Schiefermeier, M.1
-
17
-
-
0027446365
-
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
-
Vulpe C et al. (1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 3: 7-13
-
(1993)
Nat Genet
, vol.3
, pp. 7-13
-
-
Vulpe, C.1
-
18
-
-
0030671295
-
Delivering copper inside yeast and human cells
-
Valentine JS and Gralla B (1997) Delivering copper inside yeast and human cells. Science 278: 817-818
-
(1997)
Science
, vol.278
, pp. 817-818
-
-
Valentine, J.S.1
Gralla, B.2
-
19
-
-
0030843982
-
Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments
-
Yang XL et al. (1997) Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments. Biochem J 326: 897-902
-
(1997)
Biochem J
, vol.326
, pp. 897-902
-
-
Yang, X.L.1
-
20
-
-
0033826437
-
Cellular copper transport and metabolism
-
Harris ED (2000) Cellular copper transport and metabolism. Annu Rev Nutr 20: 291-310
-
(2000)
Annu Rev Nutr
, vol.20
, pp. 291-310
-
-
Harris, E.D.1
-
21
-
-
4444271369
-
Wilson disease
-
In edn 9, (Eds Schiff ER et al.) Philadelphia: Lippincott Williams & Wilkins
-
Schilsky M and Tavill AS (2003) Wilson disease. In Disease of the Liver, edn 9, 1169-1186 (Eds Schiff ER et al.) Philadelphia: Lippincott Williams & Wilkins
-
(2003)
Disease of the Liver
, pp. 1169-1186
-
-
Schilsky, M.1
Tavill, A.S.2
-
23
-
-
33644857818
-
XIAP is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders
-
Mufti AR et al. (2006) XIAP is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders. Mol Cell 21: 775-785
-
(2006)
Mol Cell
, vol.21
, pp. 775-785
-
-
Mufti, A.R.1
-
24
-
-
0004182647
-
Wilson disease
-
Philadelphia: WB Saunders
-
Scheinberg IH and Sternlieb I (1984) Wilson disease. Philadelphia: WB Saunders
-
(1984)
-
-
Scheinberg, I.H.1
Sternlieb, I.2
-
25
-
-
14244260491
-
Wilson disease in septuagenarian siblings: Raising the bar for diagnosis
-
Ala A et al. (2005) Wilson disease in septuagenarian siblings: Raising the bar for diagnosis. Hepatology 41: 668-670
-
(2005)
Hepatology
, vol.41
, pp. 668-670
-
-
Ala, A.1
-
26
-
-
33747754045
-
Neurologic aspects of Wilson's disease: Clinical manifestations and treatment considerations
-
In edn 4, (Eds Jankovic JJ and Tolosa E) Philadelphia: Lippincott Williams & Wilkins
-
Le Witt P and Pfeiffe R (2002) Neurologic aspects of Wilson's disease: clinical manifestations and treatment considerations. In Parkinson's Disease and Movement Disorders, edn 4, 240-255 (Eds Jankovic JJ and Tolosa E) Philadelphia: Lippincott Williams & Wilkins
-
(2002)
Parkinson's Disease and Movement Disorders
, pp. 240-255
-
-
Le Witt, P.1
Pfeiffe, R.2
-
27
-
-
0034198684
-
Wilson's disease: Early onset and lessons from a pediatric cohort in India
-
Kalra V et al. (2000) Wilson's disease: Early onset and lessons from a pediatric cohort in India. Indian Pediatr 37: 595-601
-
(2000)
Indian Pediatr
, vol.37
, pp. 595-601
-
-
Kalra, V.1
-
28
-
-
0023097124
-
Clinical assessment of 31 patients with Wilson's disease: Correlations with structural changes on magnetic resonance imaging
-
Starosta-Rubinstein S et al. (1987) Clinical assessment of 31 patients with Wilson's disease: Correlations with structural changes on magnetic resonance imaging. Arch Neurol 44: 365-370
-
(1987)
Arch Neurol
, vol.44
, pp. 365-370
-
-
Starosta-Rubinstein, S.1
-
29
-
-
0032105707
-
Wilson's disease: Clinical and radiological features
-
Jha SK et al. (1998) Wilson's disease: Clinical and radiological features. J Assoc Physicians India. 46: 602-605
-
(1998)
J Assoc Physicians India
, vol.46
, pp. 602-605
-
-
Jha, S.K.1
-
31
-
-
12744269295
-
Serial diffusion weighted MRI in a case of Wilson's disease with acute onset of hemichorea
-
Kwamura N et al. (2004) Serial diffusion weighted MRI in a case of Wilson's disease with acute onset of hemichorea. J Neurol 251: 1413-1414
-
(2004)
J Neurol
, vol.251
, pp. 1413-1414
-
-
Kwamura, N.1
-
32
-
-
33747774384
-
Wilson disease
-
In (Ed Pulsat FM) Amsterdam: Academic Press
-
Menkes JH (2003) Wilson disease. In Genetics of movement disorders, 341-352 (Ed Pulsat FM) Amsterdam: Academic Press
-
(2003)
Genetics of Movement Disorders
, pp. 341-352
-
-
Menkes, J.H.1
-
33
-
-
0036036944
-
Autonomic dysfunction in Wilson's disease - A clinical and electrophysiological study
-
Meenakshi Sundaram S et al. (2002) Autonomic dysfunction in Wilson's disease - a clinical and electrophysiological study. Clin Auton Res 12: 185-189
-
(2002)
Clin Auton Res
, vol.12
, pp. 185-189
-
-
Meenakshi Sundaram, S.1
-
34
-
-
2442690500
-
Wilson's disease: Diagnostic errors and clinical implications
-
Prashanth LK et al. (2004) Wilson's disease: Diagnostic errors and clinical implications. J Neurol Neurosurg Psychiatry 75: 907-909
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, pp. 907-909
-
-
Prashanth, L.K.1
-
35
-
-
0142029450
-
Diagnosis and phenotypic classification of Wilson disease: Final report of the proceedings of the working party at the International Meeting on Wilson disease and Menkes disease Leipzig/Germany, April 16-18, 2001
-
Ferenci P et al. (2003) Diagnosis and phenotypic classification of Wilson disease: Final report of the proceedings of the working party at the International Meeting on Wilson disease and Menkes disease, Leipzig/ Germany, April 16-18, 2001. Liver Int 23: 139-142
-
(2003)
Liver Int
, vol.23
, pp. 139-142
-
-
Ferenci, P.1
-
36
-
-
0025205112
-
Perspectives on Wilson's disease
-
Sternlieb I (1990) Perspectives on Wilson's disease. Hepatology 12: 1234-1239
-
(1990)
Hepatology
, vol.12
, pp. 1234-1239
-
-
Sternlieb, I.1
-
37
-
-
0026535178
-
Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease
-
Martins da Costa C et al. (1992) Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease. Hepatology 15: 609-615
-
(1992)
Hepatology
, vol.15
, pp. 609-615
-
-
Martins da Costa, C.1
-
38
-
-
23644446858
-
Diagnostic value of quantitative hepatic copper determination in patients with Wilson's disease
-
Ferenci P et al. (2005) Diagnostic value of quantitative hepatic copper determination in patients with Wilson's disease. Clin Gastroenterol Hepatol 3: 811-818
-
(2005)
Clin Gastroenterol Hepatol
, vol.3
, pp. 811-818
-
-
Ferenci, P.1
-
39
-
-
0029036102
-
65Cu) in the differential diagnosis of Wilson's disease
-
65Cu) in the differential diagnosis of Wilson's disease. Clin Sci 88: 727-732
-
(1995)
Clin Sci
, vol.88
, pp. 727-732
-
-
Lyon, T.D.1
-
40
-
-
0023733037
-
Diagnosis and treatment of presymptomatic Wilson's disease
-
Walshe JM (1988) Diagnosis and treatment of presymptomatic Wilson's disease. Lancet 2: 435-437
-
(1988)
Lancet
, vol.2
, pp. 435-437
-
-
Walshe, J.M.1
-
41
-
-
0028153176
-
Improvement of prenatal diagnosis of Wilson disease using microsatellite markers
-
Loudianos G et al. (1994) Improvement of prenatal diagnosis of Wilson disease using microsatellite markers. Prenatal Dian 14: 999-1002
-
(1994)
Prenatal Dian
, vol.14
, pp. 999-1002
-
-
Loudianos, G.1
-
42
-
-
4143128776
-
Clinical correlation of brain MRI and MRS abnormalities in patients with Wilson disease
-
Page RA et al. (2004) Clinical correlation of brain MRI and MRS abnormalities in patients with Wilson disease. Neurology 63: 638-643
-
(2004)
Neurology
, vol.63
, pp. 638-643
-
-
Page, R.A.1
-
43
-
-
0034500319
-
'Face of the giant Panda' sign in Wilson's disease: Revisited
-
Kuruvilla A and Joseph S (2000) 'Face of the giant Panda' sign in Wilson's disease: Revisited. Neurol India 48: 395-396
-
(2000)
Neurol India
, vol.48
, pp. 395-396
-
-
Kuruvilla, A.1
Joseph, S.2
-
44
-
-
0032767467
-
Magnetic resonance imaging and proton MR spectroscopy in Wilson's disease
-
Alanen A et al. (1999) Magnetic resonance imaging and proton MR spectroscopy in Wilson's disease. Br J Radiol 72: 749-756
-
(1999)
Br J Radiol
, vol.72
, pp. 749-756
-
-
Alanen, A.1
-
45
-
-
33747762153
-
Proton magnetic resonance spectroscopy findings of Wilson's disease: Case report
-
Savranlar A et al. (2005) Proton magnetic resonance spectroscopy findings of Wilson's disease: Case report. J Neurol Sci (Turkish) 22: 297-303
-
(2005)
J Neurol Sci (Turkish)
, vol.22
, pp. 297-303
-
-
Savranlar, A.1
-
46
-
-
0030956369
-
Differentiation between portal-systemic encephalopathy and neurodegenerative disorders in patients with Wilson disease: H-1 MR spectroscopy
-
Van Den Heuvel AG et al. (1997). Differentiation between portal-systemic encephalopathy and neurodegenerative disorders in patients with Wilson disease: H-1 MR spectroscopy. Radiology 203: 539-543
-
(1997)
Radiology
, vol.203
, pp. 539-543
-
-
Van Den Heuvel, A.G.1
-
47
-
-
33644826600
-
Proton MR spectroscopy in Wilson disease: Analysis of 36 cases
-
Lucato LT et al. (2005) Proton MR spectroscopy in Wilson disease: analysis of 36 cases. AJNR Am J Neuroradiol 26: 1066-1071
-
(2005)
AJNR Am J Neuroradiol
, vol.26
, pp. 1066-1071
-
-
Lucato, L.T.1
-
48
-
-
0031842078
-
Dopamine transporter imaging with [123I]-beta -CIT demonstrates presynaptic nigrostriatal dopaminergic damage in Wilson's disease
-
Jeon B et al. (1998) Dopamine transporter imaging with [123I]-beta -CIT demonstrates presynaptic nigrostriatal dopaminergic damage in Wilson's disease. J Neurol Neurosurg Psychiatry 65: 60-64
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.65
, pp. 60-64
-
-
Jeon, B.1
-
49
-
-
0033429466
-
Penicillamine: The treatment of first choice for patients with Wilson's disease
-
Walshe JM (1999) Penicillamine: The treatment of first choice for patients with Wilson's disease. Mov Disord 14: 545-550
-
(1999)
Mov Disord
, vol.14
, pp. 545-550
-
-
Walshe, J.M.1
-
50
-
-
0020086199
-
Treatment of Wilson's disease with trientine (triethylamine tetramine dihydrochloride)
-
Walshe JM (1982) Treatment of Wilson's disease with trientine (triethylamine tetramine dihydrochloride). Lancet 1: 643-647
-
(1982)
Lancet
, vol.1
, pp. 643-647
-
-
Walshe, J.M.1
-
51
-
-
6344241919
-
Treatment of Wilson disease
-
In (Ed Kurlan R) Philadelphia: JB Lippincott Company
-
Starosta-Rubinstein S (1995) Treatment of Wilson disease. In Treatment of Movement Disorders, 115-151 (Ed Kurlan R) Philadelphia: JB Lippincott Company
-
(1995)
Treatment of Movement Disorders
, pp. 115-151
-
-
Starosta-Rubinstein, S.1
-
52
-
-
0037337399
-
Treatment of Wilson disease with ammonium tetrathiomolybdate III: Initial therapy in a total of 55 neurologically affected patients and follow up with zinc therapy
-
Brew 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. Arch Neurol 60: 378-385
-
(2003)
Arch Neurol
, vol.60
, pp. 378-385
-
-
Brew, G.J.1
-
53
-
-
0023064061
-
Management of Wilson's disease with zinc sulphate: Experience in a series of 27 patients
-
Hoogenraad TU et al. (1987) Management of Wilson's disease with zinc sulphate: Experience in a series of 27 patients. J Neurol Sci 77: 137-146
-
(1987)
J Neurol Sci
, vol.77
, pp. 137-146
-
-
Hoogenraad, T.U.1
-
54
-
-
0020823808
-
Oral zinc therapy for Wilson's disease
-
Brewer GJ et al. (1983) Oral zinc therapy for Wilson's disease. Ann Intern Med 99: 314-319
-
(1983)
Ann Intern Med
, vol.99
, pp. 314-319
-
-
Brewer, G.J.1
-
55
-
-
0028450922
-
Treatment of Wilson disease with zinc: XIII. Therapy with zinc in presymptomatic patients from the time of diagnosis
-
Brewer GJ et al. (1994) Treatment of Wilson disease with zinc: XIII. Therapy with zinc in presymptomatic patients from the time of diagnosis. J Lab Clin Med 123: 849-858
-
(1994)
J Lab Clin Med
, vol.123
, pp. 849-858
-
-
Brewer, G.J.1
-
56
-
-
0026544305
-
D-penicillamine prevents the development of hepatitis in Long-Evans Cinnamon rats with abnormal copper metabolism
-
Togashi Y et al. (1992) D-penicillamine prevents the development of hepatitis in Long-Evans Cinnamon rats with abnormal copper metabolism. Hepatology 15: 82-87
-
(1992)
Hepatology
, vol.15
, pp. 82-87
-
-
Togashi, Y.1
-
57
-
-
0033455569
-
Penicillamine should not be used as initial therapy in Wilson's disease
-
Brewer GJ (1999) Penicillamine should not be used as initial therapy in Wilson's disease. Mov Disord 14: 551-554
-
(1999)
Mov Disord
, vol.14
, pp. 551-554
-
-
Brewer, G.J.1
-
58
-
-
0033950355
-
Treatment of Wilson's disease with zinc. XVII: Treatment during pregnancy
-
Brewer GJ et al. (2000) Treatment of Wilson's disease with zinc. XVII: treatment during pregnancy. Hepatology 31: 364-370
-
(2000)
Hepatology
, vol.31
, pp. 364-370
-
-
Brewer, G.J.1
-
59
-
-
0028057852
-
Liver transplantation for Wilson's disease: Indications and outcome
-
Schilsky ML et al. (1994) Liver transplantation for Wilson's disease: indications and outcome. Hepatology 19: 583-587
-
(1994)
Hepatology
, vol.19
, pp. 583-587
-
-
Schilsky, M.L.1
-
60
-
-
0345131727
-
Cerebral manifestation of Wilson's disease successfully treated with liver transplantation
-
Bax RT et al. (1998) Cerebral manifestation of Wilson's disease successfully treated with liver transplantation. Neurology 51: 863-865
-
(1998)
Neurology
, vol.51
, pp. 863-865
-
-
Bax, R.T.1
-
61
-
-
0023009461
-
Wilson's disease: Clinical presentation and use of prognostic index
-
Nazer H et al. (1986) Wilson's disease: Clinical presentation and use of prognostic index. Gut 27: 1377-1381
-
(1986)
Gut
, vol.27
, pp. 1377-1381
-
-
Nazer, H.1
-
62
-
-
0035999550
-
Chances and shortcomings of adenovirus-mediated ATP7B gene transfer in Wilson disease: Proof of principle demonstrated in a pilot study with LEC rats
-
Ha-Hao D et al. (2002) Chances and shortcomings of adenovirus-mediated ATP7B gene transfer in Wilson disease: Proof of principle demonstrated in a pilot study with LEC rats. Z Gastroenterol 40: 209-216
-
(2002)
Z Gastroenterol
, vol.40
, pp. 209-216
-
-
Ha-Hao, D.1
-
63
-
-
33747809169
-
Diseases of the cornea
-
(Ed;) In New Delhi: Jaypee Brothers Medical Publishers (P) Ltd
-
Basak SK (Ed; 2006) Diseases of the cornea. In Atlas on Clinical Ophthalmology, 55-94. New Delhi: Jaypee Brothers Medical Publishers (P) Ltd
-
(2006)
Atlas on Clinical Ophthalmology
, pp. 55-94
-
-
Basak, S.K.1
|