-
1
-
-
0036170257
-
Iron-induced oxidant stress in non-parenchymal liver cells: mitochondrial derangement and fibrosis on acutely iron-dosed gerbils and its prevention by silybin
-
Pietrangelo A., Montosi G., Garuti C., et al. Iron-induced oxidant stress in non-parenchymal liver cells: mitochondrial derangement and fibrosis on acutely iron-dosed gerbils and its prevention by silybin. JBioenerg Biomembr 2002, 34(1):67-79.
-
(2002)
JBioenerg Biomembr
, vol.34
, Issue.1
, pp. 67-79
-
-
Pietrangelo, A.1
Montosi, G.2
Garuti, C.3
-
2
-
-
0033535442
-
Oxidative DNA damage mediated by copper(II), iron(II) and nickel(II) fenton reactions: evidence for site-specific mechanisms in the formation of double-strand breaks, 8-hydroxydeoxyguanosine and putative intra-strand cross-links
-
Lloyd D.R., Philips D.H. Oxidative DNA damage mediated by copper(II), iron(II) and nickel(II) fenton reactions: evidence for site-specific mechanisms in the formation of double-strand breaks, 8-hydroxydeoxyguanosine and putative intra-strand cross-links. Mutat Res 1999, 424(1-2):23-36.
-
(1999)
Mutat Res
, vol.424
, Issue.1-2
, pp. 23-36
-
-
Lloyd, D.R.1
Philips, D.H.2
-
3
-
-
0036569986
-
Molecular bases of cellular iron toxicity
-
Eaton J.W., Qian M.W. Molecular bases of cellular iron toxicity. Free Radic Biol Med 2002, 32(9):833-840.
-
(2002)
Free Radic Biol Med
, vol.32
, Issue.9
, pp. 833-840
-
-
Eaton, J.W.1
Qian, M.W.2
-
4
-
-
0037735344
-
Copper toxicity, oxidative stress, and antioxidant nutrients
-
Gaetke L.M., Chow C.K. Copper toxicity, oxidative stress, and antioxidant nutrients. Toxicology 2003, 189(1-2):147-163.
-
(2003)
Toxicology
, vol.189
, Issue.1-2
, pp. 147-163
-
-
Gaetke, L.M.1
Chow, C.K.2
-
5
-
-
27544502497
-
Oxidative stress, mitochondrial permeability transition, and cell death in Cu-exposed trout hepatocytes
-
Krumschnabel G., Manzl C., Berger C., et al. Oxidative stress, mitochondrial permeability transition, and cell death in Cu-exposed trout hepatocytes. Toxicol Appl Pharmacol 2005, 209(1):62-73.
-
(2005)
Toxicol Appl Pharmacol
, vol.209
, Issue.1
, pp. 62-73
-
-
Krumschnabel, G.1
Manzl, C.2
Berger, C.3
-
6
-
-
84864564238
-
Aceruloplasminemia
-
Kono S. Aceruloplasminemia. Curr Drug Targets 2012, 13(9):1190-1199.
-
(2012)
Curr Drug Targets
, vol.13
, Issue.9
, pp. 1190-1199
-
-
Kono, S.1
-
7
-
-
79960504861
-
Knockout mouse models of iron homeostasis
-
Fleming R.E., Feng Q., Britton R.S. Knockout mouse models of iron homeostasis. Annu Rev Nutr 2011, 21(31):117-137.
-
(2011)
Annu Rev Nutr
, vol.21
, Issue.31
, pp. 117-137
-
-
Fleming, R.E.1
Feng, Q.2
Britton, R.S.3
-
8
-
-
77955508573
-
Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment
-
Pietrangelo A. Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology 2010, 139(2):393-408.
-
(2010)
Gastroenterology
, vol.139
, Issue.2
, pp. 393-408
-
-
Pietrangelo, A.1
-
9
-
-
36349028180
-
Hemochromatosis: an endocrine liver disease
-
Pietrangelo A. Hemochromatosis: an endocrine liver disease. Hepatology 2007, 46(4):1291-1301.
-
(2007)
Hepatology
, vol.46
, Issue.4
, pp. 1291-1301
-
-
Pietrangelo, A.1
-
10
-
-
10844258104
-
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
-
Nemeth E., Tuttle M.S., Powelson J., et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004, 306(5704):2090-2093.
-
(2004)
Science
, vol.306
, Issue.5704
, pp. 2090-2093
-
-
Nemeth, E.1
Tuttle, M.S.2
Powelson, J.3
-
11
-
-
9344224529
-
Anovel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder J.N., Gnirke A., Thomas W., et al. Anovel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996, 13(4):399-408.
-
(1996)
Nat Genet
, vol.13
, Issue.4
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
-
12
-
-
0033564146
-
HFE genotype in patients with hemochromatosis and other liver diseases
-
Bacon B.R., Olynyk J.K., Brunt E.M., et al. HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med 1999, 130(12):953-962.
-
(1999)
Ann Intern Med
, vol.130
, Issue.12
, pp. 953-962
-
-
Bacon, B.R.1
Olynyk, J.K.2
Brunt, E.M.3
-
13
-
-
0030923653
-
Global prevalence of putative haemochromatosis mutations
-
Merryweather-Clarke A.T., Pointon J.J., Shearman J.D., et al. Global prevalence of putative haemochromatosis mutations. JMed Genet 1997, 34(4):275-278.
-
(1997)
JMed Genet
, vol.34
, Issue.4
, pp. 275-278
-
-
Merryweather-Clarke, A.T.1
Pointon, J.J.2
Shearman, J.D.3
-
14
-
-
0036177909
-
Apopulation-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
-
Gochee P.A., Powell L.W., Cullen D.J., et al. Apopulation-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology 2002, 122(3):646-651.
-
(2002)
Gastroenterology
, vol.122
, Issue.3
, pp. 646-651
-
-
Gochee, P.A.1
Powell, L.W.2
Cullen, D.J.3
-
15
-
-
67651115587
-
Differences in hepatic phenotype between hemochromatosis patients with HFE C282Y homozygosity and other HFE genotypes
-
Cheng R., Barton J.C., Morrison E.D., et al. Differences in hepatic phenotype between hemochromatosis patients with HFE C282Y homozygosity and other HFE genotypes. JClin Gastroenterol 2009, 43(6):569-573.
-
(2009)
JClin Gastroenterol
, vol.43
, Issue.6
, pp. 569-573
-
-
Cheng, R.1
Barton, J.C.2
Morrison, E.D.3
-
16
-
-
77953120762
-
EASL clinical practice guidelines for HFE hemochromatosis
-
EASL clinical practice guidelines for HFE hemochromatosis. JHepatol 2010, 53(1):3-22.
-
(2010)
JHepatol
, vol.53
, Issue.1
, pp. 3-22
-
-
-
17
-
-
79954427110
-
Clinical penetrance of C282Y homozygous HFE hemochromatosis
-
Rossi E., Olynyk J.K., Jeffrey G.P. Clinical penetrance of C282Y homozygous HFE hemochromatosis. Expert Rev Hematol 2008, 1(2):205-216.
-
(2008)
Expert Rev Hematol
, vol.1
, Issue.2
, pp. 205-216
-
-
Rossi, E.1
Olynyk, J.K.2
Jeffrey, G.P.3
-
18
-
-
7044222320
-
Iron, hemochromatosis, and hepatocellular carcinoma
-
Kowdley K.V. Iron, hemochromatosis, and hepatocellular carcinoma. Gastroenterology 2004, 127(5 Suppl 1):S79-S86.
-
(2004)
Gastroenterology
, vol.127
, Issue.5 SUPPL 1
-
-
Kowdley, K.V.1
-
19
-
-
20244372858
-
Hemochromatosis and iron-overload screening in a racially diverse population
-
Adams P.C., Reboussin D.M., Barton J.C., et al. Hemochromatosis and iron-overload screening in a racially diverse population. NEngl J Med 2005, 352(17):1769-1778.
-
(2005)
NEngl J Med
, vol.352
, Issue.17
, pp. 1769-1778
-
-
Adams, P.C.1
Reboussin, D.M.2
Barton, J.C.3
-
20
-
-
0021215227
-
Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests
-
Bassett M.L., Halliday J.W., Ferris R.A., et al. Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests. Gastroenterology 1984, 87(3):628-633.
-
(1984)
Gastroenterology
, vol.87
, Issue.3
, pp. 628-633
-
-
Bassett, M.L.1
Halliday, J.W.2
Ferris, R.A.3
-
21
-
-
84859365658
-
Treatment of hyperferritinemia
-
Beaton M.D., Adams P.C. Treatment of hyperferritinemia. Ann Hepatol 2012, 11(3):294-300.
-
(2012)
Ann Hepatol
, vol.11
, Issue.3
, pp. 294-300
-
-
Beaton, M.D.1
Adams, P.C.2
-
22
-
-
84879931036
-
HFE mutations in Caucasian participants of the Hemochromatosis and Iron Overload Screening study with serum ferritin level <1000 μg/L
-
Adams P.C., McLaren C.E., Speechley M., et al. HFE mutations in Caucasian participants of the Hemochromatosis and Iron Overload Screening study with serum ferritin level <1000 μg/L. Can J Gastroenterol 2013, 27(7):390-392.
-
(2013)
Can J Gastroenterol
, vol.27
, Issue.7
, pp. 390-392
-
-
Adams, P.C.1
McLaren, C.E.2
Speechley, M.3
-
23
-
-
33744921460
-
Liver diseases in the hemochromatosis and iron overload screening study
-
Adams P.C., Passmore L., Chakrabarti S., et al. Liver diseases in the hemochromatosis and iron overload screening study. Clin Gastroenterol Hepatol 2006, 4(7):918-923.
-
(2006)
Clin Gastroenterol Hepatol
, vol.4
, Issue.7
, pp. 918-923
-
-
Adams, P.C.1
Passmore, L.2
Chakrabarti, S.3
-
24
-
-
38349079861
-
Iron-overload-related disease in HFE hereditary hemochromatosis
-
Allen K.J., Gurrin L.C., Constantine C.C., et al. Iron-overload-related disease in HFE hereditary hemochromatosis. NEngl J Med 2008, 358(3):221-230.
-
(2008)
NEngl J Med
, vol.358
, Issue.3
, pp. 221-230
-
-
Allen, K.J.1
Gurrin, L.C.2
Constantine, C.C.3
-
25
-
-
77956625820
-
HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis
-
Allen K.J., Bertalli N.A., Osborne N.J., et al. HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis. Hepatology 2010, 52(3):925-933.
-
(2010)
Hepatology
, vol.52
, Issue.3
, pp. 925-933
-
-
Allen, K.J.1
Bertalli, N.A.2
Osborne, N.J.3
-
26
-
-
84858704595
-
Increased risk of death from iron overload among 422 treated probands with HFE hemochromatosis and serum levels of ferritin greater than 1000 μg/L at diagnosis
-
Barton J.C., Barton J.C., Acton R.T., et al. Increased risk of death from iron overload among 422 treated probands with HFE hemochromatosis and serum levels of ferritin greater than 1000 μg/L at diagnosis. Clin Gastroenterol Hepatol 2012, 10(4):412-416.
-
(2012)
Clin Gastroenterol Hepatol
, vol.10
, Issue.4
, pp. 412-416
-
-
Barton, J.C.1
Barton, J.C.2
Acton, R.T.3
-
27
-
-
1442306702
-
Non-HFE hemochromatosis
-
Pietrangelo A. Non-HFE hemochromatosis. Hepatology 2004, 39:21-29.
-
(2004)
Hepatology
, vol.39
, pp. 21-29
-
-
Pietrangelo, A.1
-
29
-
-
79959547265
-
Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases
-
Bacon B.R., Adams P.C., Kowdley K.V., et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011, 54(1):328-343.
-
(2011)
Hepatology
, vol.54
, Issue.1
, pp. 328-343
-
-
Bacon, B.R.1
Adams, P.C.2
Kowdley, K.V.3
-
30
-
-
11244355277
-
Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance
-
St.Pierre T.G., Clarke P.R., Chua-Anusorn W. Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood 2005, 105(2):855-861.
-
(2005)
Blood
, vol.105
, Issue.2
, pp. 855-861
-
-
St Pierre, T.G.1
Clarke, P.R.2
Chua-Anusorn, W.3
-
31
-
-
0842283228
-
Non-invasive assessment of hepatic iron stores by MRI
-
Gandon Y., Olivie D., Guyader D., et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet 2004, 363(9406):357-362.
-
(2004)
Lancet
, vol.363
, Issue.9406
, pp. 357-362
-
-
Gandon, Y.1
Olivie, D.2
Guyader, D.3
-
32
-
-
0032913108
-
Quantitative study of the variability of hepatic iron concentrations
-
Emond M.J., Bronner M.P., Carlson T.H., et al. Quantitative study of the variability of hepatic iron concentrations. Clin Chem 1999, 45(3):340-346.
-
(1999)
Clin Chem
, vol.45
, Issue.3
, pp. 340-346
-
-
Emond, M.J.1
Bronner, M.P.2
Carlson, T.H.3
-
33
-
-
80052657110
-
Pathology of hepatic iron overload
-
Deugnier Y., Turlin B. Pathology of hepatic iron overload. Semin Liver Dis 2011, 31(3):260-271.
-
(2011)
Semin Liver Dis
, vol.31
, Issue.3
, pp. 260-271
-
-
Deugnier, Y.1
Turlin, B.2
-
34
-
-
43049162487
-
Diagnosis of liver fibrosis using FibroScan and other noninvasive methods in patients with hemochromatosis: a prospective study
-
Adhoute X., Foucher J., Laharie D., et al. Diagnosis of liver fibrosis using FibroScan and other noninvasive methods in patients with hemochromatosis: a prospective study. Gastroenterol Clin Biol 2008, 32(2):180-187.
-
(2008)
Gastroenterol Clin Biol
, vol.32
, Issue.2
, pp. 180-187
-
-
Adhoute, X.1
Foucher, J.2
Laharie, D.3
-
35
-
-
61949381998
-
Serum hyaluronic acid with serum ferritin accurately predicts cirrhosis and the need for liver biopsy in C282Y hemochromatosis
-
Crawford D.H., Murphy T.L., Ramm L.E., et al. Serum hyaluronic acid with serum ferritin accurately predicts cirrhosis and the need for liver biopsy in C282Y hemochromatosis. Hepatology 2009, 49(2):418-425.
-
(2009)
Hepatology
, vol.49
, Issue.2
, pp. 418-425
-
-
Crawford, D.H.1
Murphy, T.L.2
Ramm, L.E.3
-
36
-
-
0017142698
-
Long term results of venesection therapy in idiopathic hemochromatosis
-
Bomford A., Williams R. Long term results of venesection therapy in idiopathic hemochromatosis. QJ Med 1976, 45(180):611-623.
-
(1976)
QJ Med
, vol.45
, Issue.180
, pp. 611-623
-
-
Bomford, A.1
Williams, R.2
-
37
-
-
33747042226
-
Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases
-
Falize L., Guillygomarc'h A., Perrin M., et al. Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases. Hepatology 2006, 44(2):472-477.
-
(2006)
Hepatology
, vol.44
, Issue.2
, pp. 472-477
-
-
Falize, L.1
Guillygomarc'h, A.2
Perrin, M.3
-
38
-
-
0021683876
-
Hypogonadism in hemochromatosis: reversal with iron depletion
-
Kelly T.M., Edwards C.Q., Meikle A.W., et al. Hypogonadism in hemochromatosis: reversal with iron depletion. Ann Intern Med 1984, 101(5):629-632.
-
(1984)
Ann Intern Med
, vol.101
, Issue.5
, pp. 629-632
-
-
Kelly, T.M.1
Edwards, C.Q.2
Meikle, A.W.3
-
39
-
-
0027195486
-
Reversibility of hypogonadotrophic hypogonadism associated with genetic haemochromatosis
-
Cundy T., Butler J., Bomford A., et al. Reversibility of hypogonadotrophic hypogonadism associated with genetic haemochromatosis. Clin Endocrinol (Oxf) 1993, 38(6):617-620.
-
(1993)
Clin Endocrinol (Oxf)
, vol.38
, Issue.6
, pp. 617-620
-
-
Cundy, T.1
Butler, J.2
Bomford, A.3
-
40
-
-
36348935617
-
Prevalence of hepatic iron overload and association with hepatocellular cancer in end-stage liver disease: results from the National Hemochromatosis Transplant Registry
-
Ko C., Siddaiah N., Berger J., et al. Prevalence of hepatic iron overload and association with hepatocellular cancer in end-stage liver disease: results from the National Hemochromatosis Transplant Registry. Liver Int 2007, 27(10):1394-1401.
-
(2007)
Liver Int
, vol.27
, Issue.10
, pp. 1394-1401
-
-
Ko, C.1
Siddaiah, N.2
Berger, J.3
-
41
-
-
0024446959
-
Food iron absorption in idiopathic hemochromatosis
-
Lynch S.R., Skikne B.S., Cook J.D. Food iron absorption in idiopathic hemochromatosis. Blood 1989, 74(6):2187-2193.
-
(1989)
Blood
, vol.74
, Issue.6
, pp. 2187-2193
-
-
Lynch, S.R.1
Skikne, B.S.2
Cook, J.D.3
-
42
-
-
78049509815
-
Aphase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis
-
Phatak P., Brissot P., Wurster M., et al. Aphase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis. Hepatology 2010, 52(5):1671-1679.
-
(2010)
Hepatology
, vol.52
, Issue.5
, pp. 1671-1679
-
-
Phatak, P.1
Brissot, P.2
Wurster, M.3
-
43
-
-
34447633359
-
Therapeutic erythrocytapheresis versus phlebotomy in the initial treatment of hereditary hemochromatosis-a pilot study
-
Rombout-Sestrienkona E., Van Noord P.A., Van Deursen C.T., et al. Therapeutic erythrocytapheresis versus phlebotomy in the initial treatment of hereditary hemochromatosis-a pilot study. Transfus Apher Sci 2007, 36(3):261-267.
-
(2007)
Transfus Apher Sci
, vol.36
, Issue.3
, pp. 261-267
-
-
Rombout-Sestrienkona, E.1
Van Noord, P.A.2
Van Deursen, C.T.3
-
44
-
-
84888025692
-
Liver transplantation normalizes serum hepcidin level and cures iron metabolism alterations in HFE hemochromatosis
-
[Epub ahead of print]
-
Bardou-Jacquet E., Philip J., Lorho R., et al. Liver transplantation normalizes serum hepcidin level and cures iron metabolism alterations in HFE hemochromatosis. Hepatology 2013, [Epub ahead of print].
-
(2013)
Hepatology
-
-
Bardou-Jacquet, E.1
Philip, J.2
Lorho, R.3
-
45
-
-
0032401683
-
Hemochromatosis-associated mortality in the United States from 1979 to 1992: an analysis of multiple-cause mortality data
-
Yang Q., McDonnell S.M., Khoury M.J., et al. Hemochromatosis-associated mortality in the United States from 1979 to 1992: an analysis of multiple-cause mortality data. Ann Intern Med 1998, 129(11):946-953.
-
(1998)
Ann Intern Med
, vol.129
, Issue.11
, pp. 946-953
-
-
Yang, Q.1
McDonnell, S.M.2
Khoury, M.J.3
-
46
-
-
0022368621
-
Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis
-
Niederau C., Fischer R., Sonnenberg A., et al. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. NEngl J Med 1985, 313(20):1256-1262.
-
(1985)
NEngl J Med
, vol.313
, Issue.20
, pp. 1256-1262
-
-
Niederau, C.1
Fischer, R.2
Sonnenberg, A.3
-
47
-
-
0035678345
-
Clinically overt hereditary hemochromatosis in Denmark 1948-1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients
-
Milman N., Pedersen P., á Steig T., et al. Clinically overt hereditary hemochromatosis in Denmark 1948-1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients. Ann Hematol 2001, 80(12):737-744.
-
(2001)
Ann Hematol
, vol.80
, Issue.12
, pp. 737-744
-
-
Milman, N.1
Pedersen, P.2
Á Steig, T.3
-
48
-
-
49849106357
-
Hereditary hemochromatosis: time for targeted screening
-
Phatak P.D., Bonkovsky H.L., Kowdley K.V. Hereditary hemochromatosis: time for targeted screening. Ann Intern Med 2008, 149(4):270-272.
-
(2008)
Ann Intern Med
, vol.149
, Issue.4
, pp. 270-272
-
-
Phatak, P.D.1
Bonkovsky, H.L.2
Kowdley, K.V.3
-
49
-
-
0031944939
-
Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis
-
Adams P.C. Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis. Clin Genet 1998, 53(3):176-178.
-
(1998)
Clin Genet
, vol.53
, Issue.3
, pp. 176-178
-
-
Adams, P.C.1
-
50
-
-
84887850175
-
Diagnosis and treatment of hereditary hemochromatosis: an update
-
Kanwar P., Kowdley K.V. Diagnosis and treatment of hereditary hemochromatosis: an update. Expert Rev Gastroenterol Hepatol 2013, 7(6):517-530.
-
(2013)
Expert Rev Gastroenterol Hepatol
, vol.7
, Issue.6
, pp. 517-530
-
-
Kanwar, P.1
Kowdley, K.V.2
-
51
-
-
84857342910
-
EASL Clinical Practice Guidelines: Wilson's disease
-
European Association for Study of Liver
-
European Association for Study of Liver EASL Clinical Practice Guidelines: Wilson's disease. JHepatol 2012, 56(3):671-685.
-
(2012)
JHepatol
, vol.56
, Issue.3
, pp. 671-685
-
-
-
52
-
-
84877282333
-
Agenetic study of Wilson's disease in the United Kingdom
-
Coffey A.J., Durkie M., Hague S., et al. Agenetic study of Wilson's disease in the United Kingdom. Brain 2013, 136(Pt 5):1476-1487.
-
(2013)
Brain
, vol.136
, Issue.PART 5
, pp. 1476-1487
-
-
Coffey, A.J.1
Durkie, M.2
Hague, S.3
-
53
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi R.E., Petrukhin K., Chernov I., et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993, 5(4):344-350.
-
(1993)
Nat Genet
, vol.5
, Issue.4
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
-
54
-
-
0027431996
-
Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
-
Yamaguchi Y., Heiny M.E., Gitlin J.D. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993, 197(1):271-277.
-
(1993)
Biochem Biophys Res Commun
, vol.197
, Issue.1
, pp. 271-277
-
-
Yamaguchi, Y.1
Heiny, M.E.2
Gitlin, J.D.3
-
55
-
-
0027427695
-
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene
-
Petrukhin K., Fischer S.G., Pirastu M., et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 1993, 5(4):338-343.
-
(1993)
Nat Genet
, vol.5
, Issue.4
, pp. 338-343
-
-
Petrukhin, K.1
Fischer, S.G.2
Pirastu, M.3
-
56
-
-
46249112793
-
Diagnosis and treatment of Wilson disease: an update
-
Roberts E.A., Schilsky M.L. Diagnosis and treatment of Wilson disease: an update. Hepatology 2008, 47(6):2089-2111.
-
(2008)
Hepatology
, vol.47
, Issue.6
, pp. 2089-2111
-
-
Roberts, E.A.1
Schilsky, M.L.2
-
57
-
-
84963072124
-
Progressive lenticular degeneration: familial nervous disease associated with cirrhosis of liver
-
Wilson S.A. Progressive lenticular degeneration: familial nervous disease associated with cirrhosis of liver. Brain 1912, 34:295-509.
-
(1912)
Brain
, vol.34
, pp. 295-509
-
-
Wilson, S.A.1
-
58
-
-
0012337285
-
Tetanoid chorea associated with cirrhosis of liver
-
Gowers W.R. Tetanoid chorea associated with cirrhosis of liver. Dis Nerv System 1888, 2:656.
-
(1888)
Dis Nerv System
, vol.2
, pp. 656
-
-
Gowers, W.R.1
-
59
-
-
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., et al. 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(9):1647-1656.
-
(1994)
Hum Mol Genet
, vol.3
, Issue.9
, pp. 1647-1656
-
-
Petrukhin, K.1
Lutsenko, S.2
Chernov, I.3
-
60
-
-
0034474183
-
The molecular basis of copper-transport diseases
-
Mercer J.F. The molecular basis of copper-transport diseases. Trends Mol Med 2001, 7(2):64-69.
-
(2001)
Trends Mol Med
, vol.7
, Issue.2
, pp. 64-69
-
-
Mercer, J.F.1
-
61
-
-
0029883795
-
Copper biochemistry and molecular biology
-
Linder M.C., Hazegh-Azam M. Copper biochemistry and molecular biology. Am J Clin Nutr 1996, 63(5):797S-811S.
-
(1996)
Am J Clin Nutr
, vol.63
, Issue.5
-
-
Linder, M.C.1
Hazegh-Azam, M.2
-
62
-
-
33644857818
-
XIAP Is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders
-
Mufti A.R., Burstein E., Csomos R.A., et al. XIAP Is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders. Mol Cell 2006, 21(6):775-785.
-
(2006)
Mol Cell
, vol.21
, Issue.6
, pp. 775-785
-
-
Mufti, A.R.1
Burstein, E.2
Csomos, R.A.3
-
63
-
-
0035342148
-
Acute haemolytic syndrome and liver failure as the first manifestations of Wilson's disease
-
Dabrowska E., Jabłońska-Kaszewska I., Oziebłowski A., et al. Acute haemolytic syndrome and liver failure as the first manifestations of Wilson's disease. Med Sci Monit 2001, 7(Suppl 1):246-251.
-
(2001)
Med Sci Monit
, vol.7
, Issue.SUPPL 1
, pp. 246-251
-
-
Dabrowska, E.1
Jabłońska-Kaszewska, I.2
Oziebłowski, A.3
-
64
-
-
80052691380
-
Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment
-
Rosencrantz R., Schilsky M. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin Liver Dis 2011, 31(3):245-259.
-
(2011)
Semin Liver Dis
, vol.31
, Issue.3
, pp. 245-259
-
-
Rosencrantz, R.1
Schilsky, M.2
-
66
-
-
17544388130
-
Wilson's disease in patients presenting with liver disease: a diagnostic challenge
-
Steindl P., Ferenci P., Dienes H.P., et al. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997, 113(1):212-218.
-
(1997)
Gastroenterology
, vol.113
, Issue.1
, pp. 212-218
-
-
Steindl, P.1
Ferenci, P.2
Dienes, H.P.3
-
67
-
-
78649603088
-
Re-evaluation of the diagnostic criteria forWilson disease in children with mild liver disease
-
Nicastro E., Ranucci G., Vajro P., et al. Re-evaluation of the diagnostic criteria forWilson disease in children with mild liver disease. Hepatology 2010, 52(6):1948-1956.
-
(2010)
Hepatology
, vol.52
, Issue.6
, pp. 1948-1956
-
-
Nicastro, E.1
Ranucci, G.2
Vajro, P.3
-
68
-
-
5444271161
-
Pathophysiology and clinical features of Wilson disease
-
Ferenci P. Pathophysiology and clinical features of Wilson disease. Metab Brain Dis 2004, 19(3-4):229-239.
-
(2004)
Metab Brain Dis
, vol.19
, Issue.3-4
, pp. 229-239
-
-
Ferenci, P.1
-
69
-
-
33644936760
-
Diagnostic significance of reduced serum caeruloplasmin concentration in neurological disease
-
Walshe J.M. Diagnostic significance of reduced serum caeruloplasmin concentration in neurological disease. Mov Disord 2005, 20(12):1658-1661.
-
(2005)
Mov Disord
, vol.20
, Issue.12
, pp. 1658-1661
-
-
Walshe, J.M.1
-
70
-
-
17344369934
-
Wilson's disease in children: 37-year experience and revised King's score for liver transplantation
-
Dhawan A., Taylor R.M., Cheeseman P., et al. Wilson's disease in children: 37-year experience and revised King's score for liver transplantation. Liver Transpl 2005, 11(4):441-448.
-
(2005)
Liver Transpl
, vol.11
, Issue.4
, pp. 441-448
-
-
Dhawan, A.1
Taylor, R.M.2
Cheeseman, P.3
-
71
-
-
0019368230
-
Urinary copper excretion and hepatic copper concentrations in liver disease
-
Frommer D.J. Urinary copper excretion and hepatic copper concentrations in liver disease. Digestion 1981, 21(4):169-178.
-
(1981)
Digestion
, vol.21
, Issue.4
, pp. 169-178
-
-
Frommer, D.J.1
-
72
-
-
0026535178
-
Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease
-
Martins da Costa C., Baldwin D., et al. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease. Hepatology 1992, 15(4):609-615.
-
(1992)
Hepatology
, vol.15
, Issue.4
, pp. 609-615
-
-
Martins da Costa, C.1
Baldwin, D.2
-
73
-
-
54449091326
-
Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests
-
Pediatric and Adult Acute Liver Failure Study Groups
-
Korman J.D., Volenberg I., Balko J., Pediatric and Adult Acute Liver Failure Study Groups, et al. Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests. Hepatology 2008, 48(4):1167-1174.
-
(2008)
Hepatology
, vol.48
, Issue.4
, pp. 1167-1174
-
-
Korman, J.D.1
Volenberg, I.2
Balko, J.3
-
74
-
-
23644446858
-
Diagnostic value of quantitative hepatic copper determination in patients with Wilson's disease
-
Ferenci P., Steindl-Munda P., Vogel W., et al. Diagnostic value of quantitative hepatic copper determination in patients with Wilson's disease. Clin Gastroenterol Hepatol 2005, 3(8):811-818.
-
(2005)
Clin Gastroenterol Hepatol
, vol.3
, Issue.8
, pp. 811-818
-
-
Ferenci, P.1
Steindl-Munda, P.2
Vogel, W.3
-
75
-
-
80052678089
-
Pathology of the liver in copper overload
-
Johncilla M., Mitchell K.A. Pathology of the liver in copper overload. Semin Liver Dis 2011, 31(3):239-244.
-
(2011)
Semin Liver Dis
, vol.31
, Issue.3
, pp. 239-244
-
-
Johncilla, M.1
Mitchell, K.A.2
-
76
-
-
0034036966
-
Wilson's disease with superimposed autoimmune features: report of two cases and review
-
Milkiewicz P., Saksena S., Hubscher S.G., et al. Wilson's disease with superimposed autoimmune features: report of two cases and review. JGastroenterol Hepatol 2000, 15(5):570-574.
-
(2000)
JGastroenterol Hepatol
, vol.15
, Issue.5
, pp. 570-574
-
-
Milkiewicz, P.1
Saksena, S.2
Hubscher, S.G.3
-
77
-
-
0017687326
-
Cytochemical methods for copper. Semiquantitative screening procedure for identification of abnormal copper levels in liver
-
Irons R.D., Schenk E.A., Lee J.C. Cytochemical methods for copper. Semiquantitative screening procedure for identification of abnormal copper levels in liver. Arch Pathol Lab Med 1977, 101(6):298-301.
-
(1977)
Arch Pathol Lab Med
, vol.101
, Issue.6
, pp. 298-301
-
-
Irons, R.D.1
Schenk, E.A.2
Lee, J.C.3
-
78
-
-
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(1):28-33.
-
(1998)
Histopathology
, vol.33
, Issue.1
, pp. 28-33
-
-
Pilloni, L.1
Lecca, S.2
Van Eyken, P.3
-
79
-
-
0019868997
-
Hepatic copper in primary biliary cirrhosis: biliary excretion and response to penicillamine treatment
-
Salaspuro M.P., Pikkarainen P., Sipponen P., et al. Hepatic copper in primary biliary cirrhosis: biliary excretion and response to penicillamine treatment. Gut 1981, 22(11):901-906.
-
(1981)
Gut
, vol.22
, Issue.11
, pp. 901-906
-
-
Salaspuro, M.P.1
Pikkarainen, P.2
Sipponen, P.3
-
80
-
-
80052679496
-
Clinical molecular diagnosis of Wilson disease
-
Bennett J., Hahn S.H. Clinical molecular diagnosis of Wilson disease. Semin Liver Dis 2011, 31(3):233-238.
-
(2011)
Semin Liver Dis
, vol.31
, Issue.3
, pp. 233-238
-
-
Bennett, J.1
Hahn, S.H.2
-
81
-
-
0030012456
-
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease
-
Chuang L.M., Wu H.P., Jang M.H., et al. High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. JMed Genet 1996, 33(6):521-523.
-
(1996)
JMed Genet
, vol.33
, Issue.6
, pp. 521-523
-
-
Chuang, L.M.1
Wu, H.P.2
Jang, M.H.3
-
82
-
-
0030971764
-
Haplotype and mutation analysis in Japanese patients with Wilson disease
-
Nanji M.S., Nguyen V.T., Kawasoe J.H., et al. Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 1997, 60(6):1423-1429.
-
(1997)
Am J Hum Genet
, vol.60
, Issue.6
, pp. 1423-1429
-
-
Nanji, M.S.1
Nguyen, V.T.2
Kawasoe, J.H.3
-
83
-
-
0345480774
-
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
-
Kim E.K., Yoo O.J., Song K.Y., et al. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat 1998, 11(4):275-278.
-
(1998)
Hum Mutat
, vol.11
, Issue.4
, pp. 275-278
-
-
Kim, E.K.1
Yoo, O.J.2
Song, K.Y.3
-
84
-
-
0028869945
-
The Wilson disease gene: spectrum of mutations and their consequences
-
Thomas G.R., Forbes J.R., Roberts E.A., et al. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995, 9(2):210-217.
-
(1995)
Nat Genet
, vol.9
, Issue.2
, pp. 210-217
-
-
Thomas, G.R.1
Forbes, J.R.2
Roberts, E.A.3
-
85
-
-
63649133451
-
Wilson disease in children: analysis of 57 cases
-
Manolaki N., Nikolopoulou G., Daikos G.L., et al. Wilson disease in children: analysis of 57 cases. JPediatr Gastroenterol Nutr 2009, 48(1):72-77.
-
(2009)
JPediatr Gastroenterol Nutr
, vol.48
, Issue.1
, pp. 72-77
-
-
Manolaki, N.1
Nikolopoulou, G.2
Daikos, G.L.3
-
86
-
-
0142029450
-
Diagnosis and phenotypic classification of Wilson disease
-
Ferenci P., Caca K., Loudianos G., et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003, 23(3):139-142.
-
(2003)
Liver Int
, vol.23
, Issue.3
, pp. 139-142
-
-
Ferenci, P.1
Caca, K.2
Loudianos, G.3
-
87
-
-
77957187189
-
The effects of B.A.L. in hepatolenticular degeneration
-
Cumings J.N. The effects of B.A.L. in hepatolenticular degeneration. Brain 1951, 74(1):10-22.
-
(1951)
Brain
, vol.74
, Issue.1
, pp. 10-22
-
-
Cumings, J.N.1
-
88
-
-
84875769104
-
The treatment of Wilson's disease, a rare genetic disorder of copper metabolism
-
Purchase R. The treatment of Wilson's disease, a rare genetic disorder of copper metabolism. Sci Prog 2013, 96(Pt 1):19-32.
-
(2013)
Sci Prog
, vol.96
, Issue.PART 1
, pp. 19-32
-
-
Purchase, R.1
-
89
-
-
0023272308
-
Penicillamine may detoxify copper in Wilson's disease
-
Scheinberg I.H., Sternlieb I., Schilsky M., et al. Penicillamine may detoxify copper in Wilson's disease. Lancet 1987, 2(8550):95.
-
(1987)
Lancet
, vol.2
, Issue.8550
, pp. 95
-
-
Scheinberg, I.H.1
Sternlieb, I.2
Schilsky, M.3
-
90
-
-
34248530308
-
Hereditary iron and copper deposition: diagnostics, pathogenesis and therapeutics
-
Aaseth J., Flaten T.P., Andersen O. Hereditary iron and copper deposition: diagnostics, pathogenesis and therapeutics. Scand J Gastroenterol 2007, 42(6):673-681.
-
(2007)
Scand J Gastroenterol
, vol.42
, Issue.6
, pp. 673-681
-
-
Aaseth, J.1
Flaten, T.P.2
Andersen, O.3
-
91
-
-
84880610768
-
Efficacy and safety of oral chelators in treatment of patients with Wilson disease
-
Weiss K.H., Thurik F., Gotthardt D.N., et al. Efficacy and safety of oral chelators in treatment of patients with Wilson disease. Clin Gastroenterol Hepatol 2013, 11(8):1028-1035.
-
(2013)
Clin Gastroenterol Hepatol
, vol.11
, Issue.8
, pp. 1028-1035
-
-
Weiss, K.H.1
Thurik, F.2
Gotthardt, D.N.3
-
92
-
-
75549089535
-
Triethylene tetramine dihydrochloride (trientine) in children with Wilson disease: experience at King's College Hospital and review of the literature
-
Taylor R.M., Chen Y., Dhawan A., et al. Triethylene tetramine dihydrochloride (trientine) in children with Wilson disease: experience at King's College Hospital and review of the literature. Eur J Pediatr 2009, 168(9):1061-1068.
-
(2009)
Eur J Pediatr
, vol.168
, Issue.9
, pp. 1061-1068
-
-
Taylor, R.M.1
Chen, Y.2
Dhawan, A.3
-
93
-
-
0018701443
-
Intestinal metallothionein and the mutual antagonism between copper and zinc in the rat
-
Hall A.C., Young B.W., Bremner I. Intestinal metallothionein and the mutual antagonism between copper and zinc in the rat. JInorg Biochem 1979, 11(1):57-66.
-
(1979)
JInorg Biochem
, vol.11
, Issue.1
, pp. 57-66
-
-
Hall, A.C.1
Young, B.W.2
Bremner, I.3
-
94
-
-
0030030935
-
Effects of long-term treatment in Wilson's disease with D-penicillamine and zinc sulphate
-
Czlonkowska A., Gajda J., Rodo M. Effects of long-term treatment in Wilson's disease with D-penicillamine and zinc sulphate. JNeurol 1996, 243(3):269-273.
-
(1996)
JNeurol
, vol.243
, Issue.3
, pp. 269-273
-
-
Czlonkowska, A.1
Gajda, J.2
Rodo, M.3
-
95
-
-
79953166064
-
Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease
-
Weiss K.H., Gotthardt D.N., Klemm D., et al. Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease. Gastroenterology 2011, 140(4):1189-1198.
-
(2011)
Gastroenterology
, vol.140
, Issue.4
, pp. 1189-1198
-
-
Weiss, K.H.1
Gotthardt, D.N.2
Klemm, D.3
-
96
-
-
67649874760
-
Treatment of Wilson's disease with tetrathiomolybdate: V. Control of free copper by tetrathiomolybdate and a comparison with trientine
-
Brewer G.J., Askari F., Dick R.B., et al. Treatment of Wilson's disease with tetrathiomolybdate: V. Control of free copper by tetrathiomolybdate and a comparison with trientine. Transl Res 2009, 154(2):70-77.
-
(2009)
Transl Res
, vol.154
, Issue.2
, pp. 70-77
-
-
Brewer, G.J.1
Askari, F.2
Dick, R.B.3
-
97
-
-
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 G.J., Hedera P., Kluin K.J., 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(3):379-385.
-
(2003)
Arch Neurol
, vol.60
, Issue.3
, pp. 379-385
-
-
Brewer, G.J.1
Hedera, P.2
Kluin, K.J.3
-
98
-
-
33645733769
-
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
-
Brewer G.J., Askari F., Lorincz M.T., et al. 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. Arch Neurol 2006, 63(4):521-527.
-
(2006)
Arch Neurol
, vol.63
, Issue.4
, pp. 521-527
-
-
Brewer, G.J.1
Askari, F.2
Lorincz, M.T.3
-
99
-
-
79551718663
-
Liver transplantation for children with Wilson disease: comparison of outcomes between children and adults
-
Arnon R., Annunziato R., Schilsky M., et al. Liver transplantation for children with Wilson disease: comparison of outcomes between children and adults. Clin Transplant 2011, 25(1):E52-E60.
-
(2011)
Clin Transplant
, vol.25
, Issue.1
-
-
Arnon, R.1
Annunziato, R.2
Schilsky, M.3
-
100
-
-
84873915704
-
Comparison of long-term outcome of patients with Wilson's disease presenting with acute liver failure versus acute-on-chronic liver failure
-
Thanapirom K., Treeprasertsuk S., Komolmit P., et al. Comparison of long-term outcome of patients with Wilson's disease presenting with acute liver failure versus acute-on-chronic liver failure. JMed Assoc Thai 2013, 96(2):150-156.
-
(2013)
JMed Assoc Thai
, vol.96
, Issue.2
, pp. 150-156
-
-
Thanapirom, K.1
Treeprasertsuk, S.2
Komolmit, P.3
-
101
-
-
0023009461
-
Wilson's disease: clinical presentation and use of prognostic index
-
Nazer H., Ede R.J., Mowat A.P., et al. Wilson's disease: clinical presentation and use of prognostic index. Gut 1986, 27(11):1377-1381.
-
(1986)
Gut
, vol.27
, Issue.11
, pp. 1377-1381
-
-
Nazer, H.1
Ede, R.J.2
Mowat, A.P.3
|