-
1
-
-
34147185146
-
Wilson's disease
-
Pfeiffer R. Wilson's disease. Semin Neurol 2007; 27: 123-132.
-
(2007)
Semin Neurol
, vol.27
, pp. 123-132
-
-
Pfeiffer, R.1
-
2
-
-
46249112793
-
Diagnosis and treatment of Wilson's disease an update
-
Roberts E., Schilsky M. Diagnosis and treatment of Wilson's disease an update. Hepatology 2008; 47: 2089-2111.
-
(2008)
Hepatology
, vol.47
, pp. 2089-2111
-
-
Roberts, E.1
Schilsky, M.2
-
3
-
-
84963072124
-
Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver
-
Wilson S.A. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 1912; 34: 295-509.
-
(1912)
Brain
, vol.34
, pp. 295-509
-
-
Wilson, S.A.1
-
4
-
-
0025007998
-
Genetics aspects of Wilson's disease
-
Frydman M. Genetics aspects of Wilson's disease. J Gastroenterol Hepatol 1990; 5: 483-490.
-
(1990)
J Gastroenterol Hepatol
, vol.5
, pp. 483-490
-
-
Frydman, M.1
-
5
-
-
0027452091
-
The Wilson disease gen is a putative copper transporting ATPase with homology to the Menkes disease gene
-
i wsp
-
Bull P.C., Thomas G.R., Rommens J.M. i wsp. The Wilson disease gen is a putative copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993; 5: 327-337.
-
(1993)
Nat Genet
, vol.5
, pp. 327-337
-
-
Bull, P.C.1
Thomas, G.R.2
Rommens, J.M.3
-
7
-
-
14244260491
-
Wilson disease in septuagenarian siblings: Raising the bar for diagnosis
-
i wsp
-
Ala A., Borjigin J., Rochwarger A. i wsp. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology 2005; 41: 668-670.
-
(2005)
Hepatology
, vol.41
, pp. 668-670
-
-
Ala, A.1
Borjigin, J.2
Rochwarger, A.3
-
8
-
-
7244220246
-
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson's disease: Results of meta-analysis
-
i wsp
-
Stapelbroek J.M., Bollen C.W., van Amstel J.K. i wsp. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson's disease: results of meta-analysis. J Hepatol 2004; 41: 758-763.
-
(2004)
J Hepatol
, vol.41
, pp. 758-763
-
-
Stapelbroek, J.M.1
Bollen, C.W.2
van Amstel, J.K.3
-
9
-
-
85080751615
-
The p. H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease
-
i wsp
-
Gromadzka G., Schmidt H., Genschel J. i wsp. The p. H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease. Mov Disord 2005; 20: 1-4.
-
(2005)
Mov Disord
, vol.20
, pp. 1-4
-
-
Gromadzka, G.1
Schmidt, H.2
Genschel, J.3
-
10
-
-
28644438204
-
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
-
i wsp
-
Gromadzka G., Schmidt H., Genschel J. i wsp. 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. Clin Gen 2005; 68: 524-532.
-
(2005)
Clin Gen
, vol.68
, pp. 524-532
-
-
Gromadzka, G.1
Schmidt, H.2
Genschel, J.3
-
11
-
-
0345170773
-
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease
-
i wsp
-
Gu Y.H., Kodama H., Du S.L. i wsp. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. Clin Gen 2003; 64: 479-484.
-
(2003)
Clin Gen
, vol.64
, pp. 479-484
-
-
Gu, Y.H.1
Kodama, H.2
Du, S.L.3
-
12
-
-
1242269899
-
A clinical and genetic study of 56 Saudi Wilson disease patients: Identification of Saudi-specific mutations
-
i wsp
-
Al Jumah M., Majumdar M., Al Rajeh S. i wsp. A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations. Eur J Neurol 2004; 11: 121-124.
-
(2004)
Eur J Neurol
, vol.11
, pp. 121-124
-
-
Al Jumah, M.1
Majumdar, M.2
Al Rajeh, S.3
-
13
-
-
77956609394
-
High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease
-
i wsp
-
Okada T., Shiono Y., Kaneko Y. i wsp. High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease. Scand J Gastroenterol 2010; 45: 1232-1237.
-
(2010)
Scand J Gastroenterol
, vol.45
, pp. 1232-1237
-
-
Okada, T.1
Shiono, Y.2
Kaneko, Y.3
-
14
-
-
0033975764
-
The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease
-
i wsp
-
Schiefermeier M., Kolleger H., Madl C. i wsp. The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease. Brain 2000; 123: 585-590.
-
(2000)
Brain
, vol.123
, pp. 585-590
-
-
Schiefermeier, M.1
Kolleger, H.2
Madl, C.3
-
15
-
-
85046983779
-
Apolipoprotein E genotypes in Chinese patients with Wilson's disease
-
i wsp
-
Wang X.P., Wang X.H., Bo Y.C. i wsp. Apolipoprotein E genotypes in Chinese patients with Wilson's disease. Q J Med 2003; 96: 541-544.
-
(2003)
Q J Med
, vol.96
, pp. 541-544
-
-
Wang, X.P.1
Wang, X.H.2
Bo, Y.C.3
-
16
-
-
70350650923
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Impact of apolipoprotein E genotypes on phenotypic expression in Turkish patients with Wilson's disease
-
i wsp
-
Kocabay G., Tutuncu Y., Yilmaz H. i wsp. Impact of apolipoprotein E genotypes on phenotypic expression in Turkish patients with Wilson's disease. Scand J Gastroenterol 2009; 44: 1270-1271.
-
(2009)
Scand J Gastroenterol
, vol.44
, pp. 1270-1271
-
-
Kocabay, G.1
Tutuncu, Y.2
Yilmaz, H.3
-
17
-
-
27944505894
-
Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson's disease, with a concentration on those homozygous for R778L
-
Gu Y.H., Kodama H., Du S.L. Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson's disease, with a concentration on those homozygous for R778L. Brain Dev 2005; 27: 551-553.
-
(2005)
Brain Dev
, vol.27
, pp. 551-553
-
-
Gu, Y.H.1
Kodama, H.2
Du, S.L.3
-
18
-
-
84860356867
-
Apolipoprotein E gene (APOE) genotype in Wilson's disease: Impact on clinical presentation
-
Litwin T., Gromadzka G., Czlonkowska A. Apolipoprotein E gene (APOE) genotype in Wilson's disease: impact on clinical presentation. Parkinsonism Relat Disord 2012; 18: 367-369.
-
(2012)
Parkinsonism Relat Disord
, vol.18
, pp. 367-369
-
-
Litwin, T.1
Gromadzka, G.2
Czlonkowska, A.3
-
19
-
-
33745825195
-
Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson's disease
-
Merle U., Stremmel W., Gesner R. Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson's disease. Arch Neurol 2006; 63: 982-985.
-
(2006)
Arch Neurol
, vol.63
, pp. 982-985
-
-
Merle, U.1
Stremmel, W.2
Gesner, R.3
-
20
-
-
0036137764
-
Plasma homocysteine concentrations in patients with liver cirrhosis
-
i wsp
-
Ferre N., Gomez F., Camps J. i wsp. Plasma homocysteine concentrations in patients with liver cirrhosis. Clin Chem 2002; 48: 183-185.
-
(2002)
Clin Chem
, vol.48
, pp. 183-185
-
-
Ferre, N.1
Gomez, F.2
Camps, J.3
-
21
-
-
68949170338
-
Homocysteine and endothelial markers are increased in patients with chronic liver diseases
-
Remkova A., Remko M. Homocysteine and endothelial markers are increased in patients with chronic liver diseases. Eur J Intern Med 2009; 20: 482-486.
-
(2009)
Eur J Intern Med
, vol.20
, pp. 482-486
-
-
Remkova, A.1
Remko, M.2
-
22
-
-
0035725225
-
Hyper homocysteinemia in liver cirrhosis mechanisms and role in vascular and hepatic fibrosis
-
i wsp
-
Garcia-Tevijano E.R., Berasain C., Rodriguez J.A. i wsp. Hyper homocysteinemia in liver cirrhosis mechanisms and role in vascular and hepatic fibrosis. Hypertension 2001; 38: 1217-1221.
-
(2001)
Hypertension
, vol.38
, pp. 1217-1221
-
-
Garcia-Tevijano, E.R.1
Berasain, C.2
Rodriguez, J.A.3
-
23
-
-
33644649625
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Elevated plasma homocysteine concentrations as a predictor of steatohepatitis in patients with non-alcoholic fatty liver disease
-
i wsp
-
Gulsen M., Yesilova Z., Bagci S. i wsp. Elevated plasma homocysteine concentrations as a predictor of steatohepatitis in patients with non-alcoholic fatty liver disease. J Gastroenterol Hepatol 2005; 20: 1448-1455.
-
(2005)
J Gastroenterol Hepatol
, vol.20
, pp. 1448-1455
-
-
Gulsen, M.1
Yesilova, Z.2
Bagci, S.3
-
24
-
-
80052920363
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Genetic variability in the methylentetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's Disease
-
i wsp
-
Gromadzka G., Rudnicka M., Chabik G. i wsp. Genetic variability in the methylentetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's Disease. J Hepatol 2011; 55: 913-919.
-
(2011)
J Hepatol
, vol.55
, pp. 913-919
-
-
Gromadzka, G.1
Rudnicka, M.2
Chabik, G.3
-
25
-
-
20444470299
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COMMD proteins, novel family of structural and functional homologues of MURR1
-
i wsp
-
Burstein E., Hoberg J.E., Wilkinson A.S. i wsp. COMMD proteins, novel family of structural and functional homologues of MURR1. J Biol Chem 2005; 280: 22222-22232.
-
(2005)
J Biol Chem
, vol.280
, pp. 22222-22232
-
-
Burstein, E.1
Hoberg, J.E.2
Wilkinson, A.S.3
-
26
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33646240127
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Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels
-
i wsp
-
Weiss K.H., Merle U., Schaefer M. i wsp. Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels. World J Gastroenterol 2006; 12: 2239-2242.
-
(2006)
World J Gastroenterol
, vol.12
, pp. 2239-2242
-
-
Weiss, K.H.1
Merle, U.2
Schaefer, M.3
-
27
-
-
45849092553
-
Analysis of the human Atox 1 homologue in Wilson patients
-
i wsp
-
Simon I., Schaefer M., Reichert J. i wsp. Analysis of the human Atox 1 homologue in Wilson patients. World J Gastroenterol 2008; 14: 2383-2387.
-
(2008)
World J Gastroenterol
, vol.14
, pp. 2383-2387
-
-
Simon, I.1
Schaefer, M.2
Reichert, J.3
-
28
-
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33644857818
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XIAP is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders
-
i wsp
-
Mufti A.R., Burstein E., Csomos R.A. i wsp. XIAP is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders. Mol Cell 2006; 21: 775-785.
-
(2006)
Mol Cell
, vol.21
, pp. 775-785
-
-
Mufti, A.R.1
Burstein, E.2
Csomos, R.A.3
-
29
-
-
84897921273
-
Genetic analysis of BIRC4/ XIAP as a putative modifier gene of Wilson disease
-
i wsp doi:10.1007/s10545-010-9123-5
-
Weiss K.H., Runz H., Noe B. i wsp. Genetic analysis of BIRC4/ XIAP as a putative modifier gene of Wilson disease. J Inherit Met Dis 2010, doi:10.1007/s10545-010-9123-5.
-
(2010)
J Inherit Met Dis
-
-
Weiss, K.H.1
Runz, H.2
Noe, B.3
-
30
-
-
21044446580
-
Gender and liver fibrosis in chronic hepatitis: The role of iron status
-
i wsp
-
Rigamonti C., Andorno S., Maduli E. i wsp. Gender and liver fibrosis in chronic hepatitis: the role of iron status. Aliment Pharmacol Ther 2005; 21: 1445-1451.
-
(2005)
Aliment Pharmacol Ther
, vol.21
, pp. 1445-1451
-
-
Rigamonti, C.1
Andorno, S.2
Maduli, E.3
-
31
-
-
16444367799
-
Influence of gender, race and ethnicity on suspected fatty liver obese adolescents
-
i wsp
-
Schwimmer J., McGreal N., Deutsch R. i wsp. Influence of gender, race and ethnicity on suspected fatty liver obese adolescents. Pediatrics 2005; 115: 561-565.
-
(2005)
Pediatrics
, vol.115
, pp. 561-565
-
-
Schwimmer, J.1
McGreal, N.2
Deutsch, R.3
-
32
-
-
33748953356
-
Compound over load of copper and iron in patients with Wilson's disease
-
i wsp
-
Hayashi H., Motoyoshi Y., Yoshikazu F. i wsp. Compound over load of copper and iron in patients with Wilson's disease. Med Mol Morphol 2006; 39: 121-126.
-
(2006)
Med Mol Morphol
, vol.39
, pp. 121-126
-
-
Hayashi, H.1
Motoyoshi, Y.2
Yoshikazu, F.3
-
33
-
-
0035185245
-
Iron accumulation in the liver of male patients with Wilson's disease
-
i wsp
-
Shiono Y., Wakusawa S., Hayashi H. i wsp. Iron accumulation in the liver of male patients with Wilson's disease. Am J Gastroenterol 2001; 11: 3147-3151.
-
(2001)
Am J Gastroenterol
, vol.11
, pp. 3147-3151
-
-
Shiono, Y.1
Wakusawa, S.2
Hayashi, H.3
-
34
-
-
36248995217
-
Effect of penicillamine and zinc on iron metabolism in Wilson's disease
-
i wsp
-
Medici V., di Leo V., Lamboglia F. i wsp. Effect of penicillamine and zinc on iron metabolism in Wilson's disease. Scand J Gastroenterol 2007; 42: 1495-1500.
-
(2007)
Scand J Gastroenterol
, vol.42
, pp. 1495-1500
-
-
Medici, V.1
Di Leo, V.2
Lamboglia, F.3
-
35
-
-
83255176766
-
Iron metabolism and the role of HFE gene polymorphisms in Wilson's disease
-
i wsp
-
Pfeiffenberger J., Gotthardt D.N., Herrmann T. i wsp. Iron metabolism and the role of HFE gene polymorphisms in Wilson's disease. Liver Int 2012; 32: 165-170.
-
(2012)
Liver Int
, vol.32
, pp. 165-170
-
-
Pfeiffenberger, J.1
Gotthardt, D.N.2
Herrmann, T.3
-
36
-
-
0034022898
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Increased cerebral iron uptake in Wilson's disease: A 52 Fe-citrate PET study
-
i wsp
-
Bruehleimer M., Leenders K.L., Vontobel P. i wsp. Increased cerebral iron uptake in Wilson's disease: A 52 Fe-citrate PET study. J Nucl Med 2000; 41: 781-787.
-
(2000)
J Nucl Med
, vol.41
, pp. 781-787
-
-
Bruehleimer, M.1
Leenders, K.L.2
Vontobel, P.3
-
38
-
-
78650588613
-
Influence of IL-1RN intron 2 variable number of tandem repeats (VNTR) polymorphism on the age at onset of neuropsychiatric symptoms in Wilson's disease
-
Gromadzka G., Czlonkowska A. Influence of IL-1RN intron 2 variable number of tandem repeats (VNTR) polymorphism on the age at onset of neuropsychiatric symptoms in Wilson's disease. Int J Neurosci 2011; 121: 8-15.
-
(2011)
Int J Neurosci
, vol.121
, pp. 8-15
-
-
Gromadzka, G.1
Czlonkowska, A.2
-
39
-
-
84863328264
-
Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms
-
i wsp
-
Bruha R., Vitek L., Marecek Z. i wsp. Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms. J Inherit Metab Dis 2012; 35: 541-548.
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 541-548
-
-
Bruha, R.1
Vitek, L.2
Marecek, Z.3
-
40
-
-
0034438846
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The level of serum lipids, vitamin E and low density lipoprotein oxidation in Wilson's disease patients
-
i wsp
-
Rodo M., Członkowska A., Pulawska M. i wsp. The level of serum lipids, vitamin E and low density lipoprotein oxidation in Wilson's disease patients. Eur J Neurol 2000; 7: 491-494.
-
(2000)
Eur J Neurol
, vol.7
, pp. 491-494
-
-
Rodo, M.1
Członkowska, A.2
Pulawska, M.3
-
41
-
-
0030026203
-
Alpha-tocopherol ameliorates oxidant injury in isolated copper-overloaded rat hepatocytes
-
Sokol R.J., McKim J.M. Jr, Deveraux M.W. Alpha-tocopherol ameliorates oxidant injury in isolated copper-overloaded rat hepatocytes. Pediatr Res 1996; 39: 259-263.
-
(1996)
Pediatr Res
, vol.39
, pp. 259-263
-
-
Sokol, R.J.1
McKim Jr., J.M.2
Deveraux, M.W.3
-
42
-
-
20844462076
-
Wilson's disease-cause of mortality in 164 patients during 1992-2003 observation period
-
i wsp
-
Członkowska A., Tarnacka B., Litwin T. i wsp. Wilson's disease-cause of mortality in 164 patients during 1992-2003 observation period. J Neurol 2005; 252: 698-703.
-
(2005)
J Neurol
, vol.252
, pp. 698-703
-
-
Członkowska, A.1
Tarnacka, B.2
Litwin, T.3
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