-
1
-
-
0033214908
-
Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p
-
Larin D. Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p. J Biol Chem 1999 ; 40 : 28497-504.
-
(1999)
J Biol Chem
, vol.40
, pp. 28497-28504
-
-
Larin, D.1
-
2
-
-
0037903315
-
Functional properties of the human copper transporting ATPase ATP7B (the Wilson's disease protein) and regulation by metallochaperone atox1
-
Lutsenko S, Tsivkovskii R, Walker JM. Functional properties of the human copper transporting ATPase ATP7B (the Wilson's disease protein) and regulation by metallochaperone atox1. Ann N Y Acad Sci 2003 ; 986 : 204-11.
-
(2003)
Ann N Y Acad Sci
, vol.986
, pp. 204-211
-
-
Lutsenko, S.1
Tsivkovskii, R.2
Walker, J.M.3
-
3
-
-
0027943858
-
Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis
-
Sokol RJ, Twedt D, McKim JM, Devreaux MW, Karrer FM, Kam I. Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis. Gastroenterology 1994 ; 107 : 1788-98.
-
(1994)
Gastroenterology
, vol.107
, pp. 1788-1798
-
-
Sokol, R.J.1
Twedt, D.2
McKim, J.M.3
Devreaux, M.W.4
Karrer, F.M.5
Kam, I.6
-
4
-
-
0038810040
-
Zinc treatment prevents lipid peroxidation and increases glutathione availability in Wilson's disease
-
Farinati F, Cardin R, D'inca R, Naccarato R, Sturniolo GC. Zinc treatment prevents lipid peroxidation and increases glutathione availability in Wilson's disease. J Lab Clin Med 2003 ; 141 : 372-7.
-
(2003)
J Lab Clin Med
, vol.141
, pp. 372-377
-
-
Farinati, F.1
Cardin, R.2
D'inca, R.3
Naccarato, R.4
Sturniolo, G.C.5
-
5
-
-
0345059398
-
Wilson disease
-
Gitlin JD. Wilson disease. Gastroenterology 2003 ; 125 : 1868-77.
-
(2003)
Gastroenterology
, vol.125
, pp. 1868-1877
-
-
Gitlin, J.D.1
-
7
-
-
4744364702
-
Wilson disease: Pathophysiology, diagnosis, treatment, and screening
-
Ala A, Schilsky ML. Wilson disease : pathophysiology, diagnosis, treatment, and screening. Clin Liver Dis 2004 ; 8 : 787-805.
-
(2004)
Clin Liver Dis
, vol.8
, pp. 787-805
-
-
Ala, A.1
Schilsky, M.L.2
-
8
-
-
22144447718
-
Wilson disease: New insights into pathogenesis, diagnosis and future therapy
-
Schilsky ML. Wilson disease : new insights into pathogenesis, diagnosis and future therapy. Curr Gastroenterol Rep 2005 ; 7 : 26-31.
-
(2005)
Curr Gastroenterol Rep
, vol.7
, pp. 26-31
-
-
Schilsky, M.L.1
-
11
-
-
0142029450
-
Diagnosis and phenotypic classification of Wilson disease
-
Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liv Intern 2003 ; 23 : 139-42.
-
(2003)
Liv Intern
, vol.23
, pp. 139-142
-
-
Ferenci, P.1
Caca, K.2
Loudianos, G.3
-
12
-
-
0027243262
-
Early diagnosis of Wilson's disease
-
Hiyamuta S, Shimizu K, Aoki T. Early diagnosis of Wilson's disease. Lancet 1993 ; 342 : 56-7.
-
(1993)
Lancet
, vol.342
, pp. 56-57
-
-
Hiyamuta, S.1
Shimizu, K.2
Aoki, T.3
-
13
-
-
10944225833
-
Value of an enzymatic assay for the determination of serum ceruloplasmin
-
Macintyre G, Gutfreund KS, Martin WRW, Camicioli R, Cox DW. Value of an enzymatic assay for the determination of serum ceruloplasmin. J Lab Clin Med 2004 ; 144 : 294-301.
-
(2004)
J Lab Clin Med
, vol.144
, pp. 294-301
-
-
Macintyre, G.1
Gutfreund, K.S.2
Martin, W.R.W.3
Camicioli, R.4
Cox, D.W.5
-
14
-
-
0027465356
-
Comparison of serum copper determination by colorimetric and atomic absorption spectrometric methods in seven different laboratories
-
The SFBC (Société française de biologie clinique) Trace Element Group
-
Arnaud J, Chappuis P, Zawislak R, et al. Comparison of serum copper determination by colorimetric and atomic absorption spectrometric methods in seven different laboratories. The SFBC (Société française de biologie clinique) Trace Element Group. Clin Biochem 1993 ; 26 : 43-9.
-
(1993)
Clin Biochem
, vol.26
, pp. 43-49
-
-
Arnaud, J.1
Chappuis, P.2
Zawislak, R.3
-
15
-
-
4243903702
-
Détermination du cuivre et du zinc
-
Chappuis P, ed. Paris : Lavoisier Tec-Doc
-
Arnaud J. Détermination du cuivre et du zinc. In : Chappuis P, ed. Technique d'analyse des oligoéléments. Paris : Lavoisier Tec-Doc, 1995 : 77-92.
-
(1995)
Technique d'Analyse des Oligoéléments
, pp. 77-92
-
-
Arnaud, J.1
-
16
-
-
0037566015
-
A practical guideline on Wilson disease
-
Roberts EA, Schilsky ML. A practical guideline on Wilson disease. Hepatology 2003 ; 37 : 1475-92.
-
(2003)
Hepatology
, vol.37
, pp. 1475-1492
-
-
Roberts, E.A.1
Schilsky, M.L.2
-
17
-
-
85047685399
-
Diagnosis of Wilson's disease: An experience over three decades
-
Brewer GJ. Diagnosis of Wilson's disease : an experience over three decades. Gut 2002 ; 50 : 136.
-
(2002)
Gut
, vol.50
, pp. 136
-
-
Brewer, G.J.1
-
18
-
-
0027329983
-
Sampling conditions of biological fluids for monitoring trace elements at hospital: A practical review
-
Pineau A, Guillard O, Chappuis P, Arnaud J, Zawislak R. Sampling conditions of biological fluids for monitoring trace elements at hospital : a practical review. Crit Rev Clin Lab Sci 1993 ; 30 : 203-22.
-
(1993)
Crit Rev Clin Lab Sci
, vol.30
, pp. 203-222
-
-
Pineau, A.1
Guillard, O.2
Chappuis, P.3
Arnaud, J.4
Zawislak, R.5
-
19
-
-
7344251892
-
Value of histochemical stains for copper in the diagnosis of Wilson's disease
-
Pilloni L, Lecca S, Van Eyken P, et al. Value of histochemical stains for copper in the diagnosis of Wilson's disease. Histopathology 1998 ; 33 : 28-33.
-
(1998)
Histopathology
, vol.33
, pp. 28-33
-
-
Pilloni, L.1
Lecca, S.2
Van Eyken, P.3
-
20
-
-
0031982247
-
Wilson disease in 1998: Genetic, diagnostic and therapeutic aspects
-
Gollan JL, Gollan TJ. Wilson disease in 1998 : genetic, diagnostic and therapeutic aspects. J Hepatol 1998 ; 28 : 28-36.
-
(1998)
J Hepatol
, vol.28
, pp. 28-36
-
-
Gollan, J.L.1
Gollan, T.J.2
-
21
-
-
0028040512
-
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions
-
Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase : genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 1994 ; 3 : 1647-56.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1647-1656
-
-
Petrukhin, K.1
Lutsenko, S.2
Chernov, I.3
Ross, B.M.4
Kaplan, J.H.5
Gilliam, T.C.6
-
22
-
-
0028869945
-
The Wilson disease gene: Spectrum of mutations and their consequences
-
Erratum in : Nat Genet 1995 ; 9 : 451
-
Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene : spectrum of mutations and their consequences. Nat Genet 1995 ; 9 : 210-7. Erratum in : Nat Genet 1995 ; 9 : 451.
-
(1995)
Nat Genet
, vol.9
, pp. 210-217
-
-
Thomas, G.R.1
Forbes, J.R.2
Roberts, E.A.3
Walshe, J.M.4
Cox, D.W.5
-
23
-
-
0029941679
-
Misdiagnosis revealed by genetic linkage analysis in a family with Wilson disease
-
Vidaud D, Assouline B, Lecoz P, Cadranel JF, Chappuis P. Misdiagnosis revealed by genetic linkage analysis in a family with Wilson disease. Neurology 1995 ; 46 : 1485-6.
-
(1995)
Neurology
, vol.46
, pp. 1485-1486
-
-
Vidaud, D.1
Assouline, B.2
Lecoz, P.3
Cadranel, J.F.4
Chappuis, P.5
-
24
-
-
0037082977
-
Common mutations of ATP7B in Wilson disease patients from Hungary
-
Firneisz G, Lakatos PL, Szalay F, Polli C, Glant TT, Ferenci P. Common mutations of ATP7B in Wilson disease patients from Hungary. Am J Med Genet 2002 ; 108 : 23-8.
-
(2002)
Am J Med Genet
, vol.108
, pp. 23-28
-
-
Firneisz, G.1
Lakatos, P.L.2
Szalay, F.3
Polli, C.4
Glant, T.T.5
Ferenci, P.6
-
28
-
-
7244220246
-
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: Results of a meta-analysis
-
Stapelbroek JM, Bollen CW, Van Amstel JKP, et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease : results of a meta-analysis. J Hepatol 2004 ; 41 : 758-63.
-
(2004)
J Hepatol
, vol.41
, pp. 758-763
-
-
Stapelbroek, J.M.1
Bollen, C.W.2
Van Amstel, J.K.P.3
-
29
-
-
10644252548
-
Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson's disease with penicillamine
-
Becuwe C, Dalle S, Ronger-Savle S, et al. Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson's disease with penicillamine. Dermatology 2005 ; 210 : 60-3.
-
(2005)
Dermatology
, vol.210
, pp. 60-63
-
-
Becuwe, C.1
Dalle, S.2
Ronger-Savle, S.3
-
30
-
-
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
-
Brewer GJ, Hedera P, Kluin KJ, et al. 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 2003 ; 60 : 379-85.
-
(2003)
Arch Neurol
, vol.60
, pp. 379-385
-
-
Brewer, G.J.1
Hedera, P.2
Kluin, K.J.3
-
31
-
-
0033534144
-
Plasma exchange for hemolytic crisis in Wilson disease
-
Matsumura A, Hiraishi H, Terano A. Plasma exchange for hemolytic crisis in Wilson disease. Ann Intern Med 1999 ; 131 : 866.
-
(1999)
Ann Intern Med
, vol.131
, pp. 866
-
-
Matsumura, A.1
Hiraishi, H.2
Terano, A.3
-
32
-
-
0036794434
-
Albumin dialysis and molecular adsorbents recirculating system (MARS) for acute Wilson's disease
-
Sen S, Felldin M, Steiner C, et al. Albumin dialysis and molecular adsorbents recirculating system (MARS) for acute Wilson's disease. Liver Transpl 2002 ; 8 : 962-7.
-
(2002)
Liver Transpl
, vol.8
, pp. 962-967
-
-
Sen, S.1
Felldin, M.2
Steiner, C.3
-
33
-
-
4344689863
-
The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: Analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F
-
Morgan CT, Tsivkovskii R, Kosinsky YA, Efremov RG, Lutsenko S. The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase : analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F. J Biol Chem 2004 ; 279 : 36363-71.
-
(2004)
J Biol Chem
, vol.279
, pp. 36363-36371
-
-
Morgan, C.T.1
Tsivkovskii, R.2
Kosinsky, Y.A.3
Efremov, R.G.4
Lutsenko, S.5
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