-
1
-
-
0000471415
-
Disorders of copper transport
-
Scriver CR, Sly WS, Valle D, Gitlin JD, editors. New York: McGraw-Hill
-
Culotta VC. Disorders of copper transport. In: Scriver CR, Sly WS, Valle D, Gitlin JD, editors. The metabolic and molecular basis of inherited disease. New York: McGraw-Hill; 2001. p. 3105-27.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3105-3127
-
-
Culotta, V.C.1
-
2
-
-
0034425110
-
Wilson's disease
-
Sternlieb I. Wilson's disease [review]. Clin Liver Dis 2000;4:229-39, viii- ix.
-
(2000)
Clin Liver Dis
, vol.4
, pp. 229-239
-
-
Sternlieb, I.1
-
3
-
-
0345918719
-
Copper metabolism and the liver
-
Arias IM, Boyer JL, Chisari FV, Fausto N, Schachter D, Schafritz DA, editors. Philadelphia: Lippincott Williams & Wilkins
-
Hamza I, Gitlin JD. Copper metabolism and the liver. In: Arias IM, Boyer JL, Chisari FV, Fausto N, Schachter D, Schafritz DA, editors. The liver: biology and pathology. 3rd edition. Philadelphia: Lippincott Williams & Wilkins; 2001. p. 331-43.
-
(2001)
The Liver: Biology and Pathology. 3rd Edition
, pp. 331-343
-
-
Hamza, I.1
Gitlin, J.D.2
-
4
-
-
0030803730
-
Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae
-
Hung IH, Suzuki M, Yamaguchi Y, et al. Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae. J Biol Chem 1997;272:21461-6.
-
(1997)
J Biol Chem
, vol.272
, pp. 21461-21466
-
-
Hung, I.H.1
Suzuki, M.2
Yamaguchi, Y.3
-
5
-
-
0032920935
-
Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver
-
Schaefer M, Hopkins RG, Failla ML, Gitlin JD. Hepatocyte-specific localization and copperdependent trafficking of the Wilson's disease protein in the liver. Am J Physiol 1999;276:G639-46.
-
(1999)
Am J Physiol
, vol.276
-
-
Schaefer, M.1
Hopkins, R.G.2
Failla, M.L.3
Gitlin, J.D.4
-
7
-
-
0032167856
-
Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation
-
Payne AS, Kelly EJ, Gitlin JD. Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. Proc Natl Acad Sci U S A 1998;95:10854-9.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 10854-10859
-
-
Payne, A.S.1
Kelly, E.J.2
Gitlin, J.D.3
-
8
-
-
0018888158
-
Copper and the liver
-
Sternlieb I. Copper and the liver. Gastroenterology 1980;78:1615-28.
-
(1980)
Gastroenterology
, vol.78
, pp. 1615-1628
-
-
Sternlieb, I.1
-
9
-
-
0018883796
-
The significance of variations in the distribution of copper in liver disease
-
Goldfischer S, Popper H, Sternlieb I. The significance of variations in the distribution of copper in liver disease. Am J Pathol 1980;99:715-30.
-
(1980)
Am J Pathol
, vol.99
, pp. 715-730
-
-
Goldfischer, S.1
Popper, H.2
Sternlieb, I.3
-
10
-
-
84963072124
-
Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver
-
Wilson S. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 1912;34:295.
-
(1912)
Brain
, vol.34
, pp. 295
-
-
Wilson, S.1
-
12
-
-
0025088859
-
Oxidant injury to hepatic mitochondrial lipids in rats with dietary copper overload. Modification by vitamin E deficiency
-
Sokol RJ, Devereaux M, Mierau GW, Hambidge KM, Shikes RH. Oxidant injury to hepatic mitochondrial lipids in rats with dietary copper overload. Modification by vitamin E deficiency. Gastroenterology 1990;99:1061-71.
-
(1990)
Gastroenterology
, vol.99
, pp. 1061-1071
-
-
Sokol, R.J.1
Devereaux, M.2
Mierau, G.W.3
Hambidge, K.M.4
Shikes, R.H.5
-
13
-
-
0002201227
-
A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration)
-
Bearn A. A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration). Ann Hum Genet 1960;24:33.
-
(1960)
Ann Hum Genet
, vol.24
, pp. 33
-
-
Bearn, A.1
-
14
-
-
16944366995
-
Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses
-
Shah AB, Chernov I, Zhang HT, et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 1997;61:317-28.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 317-328
-
-
Shah, A.B.1
Chernov, I.2
Zhang, H.T.3
-
15
-
-
0034331742
-
Clinical manifestations and survival pattern of Wilson's disease
-
Richard VS, Harris VK, Shankar V, Loganathan G, Chandy GM. Clinical manifestations and survival pattern of Wilson's disease. Natl Med J India 2000;13:301-3.
-
(2000)
Natl Med J India
, vol.13
, pp. 301-303
-
-
Richard, V.S.1
Harris, V.K.2
Shankar, V.3
Loganathan, G.4
Chandy, G.M.5
-
16
-
-
0023009461
-
Wilson's disease: Clinical presentation and use of prognostic index
-
Nazer H, Ede RJ, Mowat AP, Williams R. Wilson's disease: clinical presentation and use of prognostic index. Gut 1986;27:1377-81.
-
(1986)
Gut
, vol.27
, pp. 1377-1381
-
-
Nazer, H.1
Ede, R.J.2
Mowat, A.P.3
Williams, R.4
-
17
-
-
0036204701
-
Diagnosis and treatment of Wilson's disease
-
Schilsky ML. Diagnosis and treatment of Wilson's disease. Pediatr Transplant 2002;6:15-9.
-
(2002)
Pediatr Transplant
, vol.6
, pp. 15-19
-
-
Schilsky, M.L.1
-
18
-
-
0033950289
-
Wilson's disease and pregnancy
-
Sternlieb I. Wilson's disease and pregnancy. Hepatology 2000;31:531-2.
-
(2000)
Hepatology
, vol.31
, pp. 531-532
-
-
Sternlieb, I.1
-
19
-
-
0036807275
-
Wilson disease manifested primarily as amenorrhea and accompanying thrombocytopenia
-
Erkan T, Aktuglu C, Gulcan EM, et al. Wilson disease manifested primarily as amenorrhea and accompanying thrombocytopenia. J Adolesc Health 2002;31:378-80.
-
(2002)
J Adolesc Health
, vol.31
, pp. 378-380
-
-
Erkan, T.1
Aktuglu, C.2
Gulcan, E.M.3
-
20
-
-
0035886108
-
Orthotopic liver transplantation for Wilson's disease: A single-center experience
-
Emre S, Atillasoy EO, Ozdemir S, et al. Orthotopic liver transplantation for Wilson's disease: a single-center experience. Transplantation 2001;72:1232-6.
-
(2001)
Transplantation
, vol.72
, pp. 1232-1236
-
-
Emre, S.1
Atillasoy, E.O.2
Ozdemir, S.3
-
21
-
-
0003294211
-
Wilson's disease
-
Warlow CP, editor. London: WB Saunders
-
Hoogenraad T. Wilson's disease. In: Warlow CP, editor. Major problems in neurology. London: WB Saunders; 1996.
-
(1996)
Major Problems in Neurology
-
-
Hoogenraad, T.1
-
23
-
-
0017651806
-
Fulminant Wilson's disease with haemolysis and renal failure: Copper studies and assessment of dialysis regimens
-
Hamlyn AN, Gollan JL, Douglas AP, Sherlock S. Fulminant Wilson's disease with haemolysis and renal failure: copper studies and assessment of dialysis regimens. BMJ 1977;2:660-2.
-
(1977)
BMJ
, vol.2
, pp. 660-662
-
-
Hamlyn, A.N.1
Gollan, J.L.2
Douglas, A.P.3
Sherlock, S.4
-
24
-
-
0017348904
-
Acute intravascular hemolysis and acute liver failure associated as a first manifestation of Wilson's disease
-
Roche-Sicot J, Benhamou JP. Acute intravascular hemolysis and acute liver failure associated as a first manifestation of Wilson's disease. Ann Intern Med 1977;86:301-3.
-
(1977)
Ann Intern Med
, vol.86
, pp. 301-303
-
-
Roche-Sicot, J.1
Benhamou, J.P.2
-
25
-
-
0029874633
-
Wilson disease: Genetic basis of copper toxicity and natural history
-
Schilsky ML. Wilson disease: genetic basis of copper toxicity and natural history. Semin Liver Dis 1996;16:83-95.
-
(1996)
Semin Liver Dis
, vol.16
, pp. 83-95
-
-
Schilsky, M.L.1
-
26
-
-
0026535178
-
Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease
-
Martins da Costa C, Baldwin D, Portmann B, et al. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease. Hepatology 1992;15:609-15.
-
(1992)
Hepatology
, vol.15
, pp. 609-615
-
-
Martins Da Costa, C.1
Baldwin, D.2
Portmann, B.3
-
27
-
-
0142029450
-
Diagnosis and phenotypic classification of Wilson disease
-
Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver 2003;23:139-42.
-
(2003)
Liver
, vol.23
, pp. 139-142
-
-
Ferenci, P.1
Caca, K.2
Loudianos, G.3
-
28
-
-
0037282657
-
Evaluation of diagnostic parameters of Wilson's disease in childhood
-
Yuce A, Kocak N, Demir H, et al. Evaluation of diagnostic parameters of Wilson's disease in childhood. Indian J Gastroenterol 2003;22:4-6.
-
(2003)
Indian J Gastroenterol
, vol.22
, pp. 4-6
-
-
Yuce, A.1
Kocak, N.2
Demir, H.3
-
29
-
-
0026683117
-
Striking variability of hepatic copper levels in fulminant hepatic failure
-
McDonald JA, Snitch P, Painter D, et al. Striking variability of hepatic copper levels in fulminant hepatic failure. J Gastroenterol Hepatol 1992;7:396-8.
-
(1992)
J Gastroenterol Hepatol
, vol.7
, pp. 396-398
-
-
McDonald, J.A.1
Snitch, P.2
Painter, D.3
-
30
-
-
0142043278
-
Diagnostic value of quantitative copper determination in liver biopsy samples in patients with Wilson disease
-
Ferenci P, Jessner W, Munda-Steindl P, Wrba F. Diagnostic value of quantitative copper determination in liver biopsy samples in patients with Wilson disease. Hepatology 2002;36:338A.
-
(2002)
Hepatology
, vol.36
-
-
Ferenci, P.1
Jessner, W.2
Munda-Steindl, P.3
Wrba, F.4
-
31
-
-
17544388130
-
Wilson's disease in patients presenting with liver disease: A diagnostic challenge
-
Steindl P, Ferenci P, Dienes HP, et al. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997;113:212-8.
-
(1997)
Gastroenterology
, vol.113
, pp. 212-218
-
-
Steindl, P.1
Ferenci, P.2
Dienes, H.P.3
-
33
-
-
0035171548
-
High prevalence of the H1069Q mutation in East German patients with Wilson disease: Rapid detection of mutations by limited sequencing and phenotype-genotype analysis
-
Caca K, Ferenci P, Kuhn HJ, et al. High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis. J Hepatol 2001;35:575-81.
-
(2001)
J Hepatol
, vol.35
, pp. 575-581
-
-
Caca, K.1
Ferenci, P.2
Kuhn, H.J.3
-
34
-
-
0029799569
-
Molecular advances in Wilson disease
-
Cox DW. Molecular advances in Wilson disease. Prog Liver Dis 1996;14:245-64.
-
(1996)
Prog Liver Dis
, vol.14
, pp. 245-264
-
-
Cox, D.W.1
-
35
-
-
0002539614
-
Treatment of Wilson's disease: What are the relative roles of penicillamine, trientine, and zinc supplementation?
-
Schilsky ML. Treatment of Wilson's disease: what are the relative roles of penicillamine, trientine, and zinc supplementation? Curr Gastroenterol Rep 2001;3:54-9.
-
(2001)
Curr Gastroenterol Rep
, vol.3
, pp. 54-59
-
-
Schilsky, M.L.1
-
36
-
-
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
-
37
-
-
0032191253
-
Treatment of Wilson's disease with zinc: XV long-term follow-up studies
-
Brewer GJ, Dick RD, Johnson VD, Brunberg JA, Kluin KJ, Fink JK. Treatment of Wilson's disease with zinc: XV long-term follow-up studies. J Lab Clin Med 1998;132:264-78.
-
(1998)
J Lab Clin Med
, vol.132
, pp. 264-278
-
-
Brewer, G.J.1
Dick, R.D.2
Johnson, V.D.3
Brunberg, J.A.4
Kluin, K.J.5
Fink, J.K.6
-
38
-
-
0035093059
-
Treatment of Wilson's disease with zinc XVI: Treatment during the pediatric years
-
Brewer GJ, Dick RD, Johnson VD, Fink JK, Kluin KJ, Daniels S. Treatment of Wilson's disease with zinc XVI: treatment during the pediatric years. J Lab Clin Med 2001;137:191-8.
-
(2001)
J Lab Clin Med
, vol.137
, pp. 191-198
-
-
Brewer, G.J.1
Dick, R.D.2
Johnson, V.D.3
Fink, J.K.4
Kluin, K.J.5
Daniels, S.6
-
39
-
-
85030878774
-
Reversal of hepatic decompensation following treatment of Wilson's disease can preclude the need for liver transplantation
-
Askari FB, Brewer GJ. Reversal of hepatic decompensation following treatment of Wilson's disease can preclude the need for liver transplantation. Hepatology 2000;32:334A.
-
(2000)
Hepatology
, vol.32
-
-
Askari, F.B.1
Brewer, G.J.2
-
40
-
-
0002431219
-
Trientine and zinc combination therapy for the treatment of Wilson's disease
-
Schilsky ML. Trientine and zinc combination therapy for the treatment of Wilson's disease. Hepatology 2001;34:210A.
-
(2001)
Hepatology
, vol.34
-
-
Schilsky, M.L.1
-
41
-
-
0035021449
-
Wilson's disease with severe hepatic insufficiency: Beneficial effects of early administration of D-penicillamine
-
Durand F, Bernuau J, Giostra E, et al. Wilson's disease with severe hepatic insufficiency: beneficial effects of early administration of D-penicillamine. Gut 2001;48:849-52.
-
(2001)
Gut
, vol.48
, pp. 849-852
-
-
Durand, F.1
Bernuau, J.2
Giostra, E.3
-
42
-
-
0028057852
-
Liver transplantation for Wilson's disease: Indications and outcome
-
Schilsky ML, Scheinberg IH, Sternlieb I. Liver transplantation for Wilson's disease: indications and outcome. Hepatology 1994;19:583-7.
-
(1994)
Hepatology
, vol.19
, pp. 583-587
-
-
Schilsky, M.L.1
Scheinberg, I.H.2
Sternlieb, I.3
-
44
-
-
0033950355
-
Treatment of Wilson's disease with zinc. XVII: Treatment during pregnancy
-
Brewer GJ, Johnson VD, Dick RD, et al. Treatment of Wilson's disease with zinc. XVII: treatment during pregnancy. Hepatology 2000;31:364-70.
-
(2000)
Hepatology
, vol.31
, pp. 364-370
-
-
Brewer, G.J.1
Johnson, V.D.2
Dick, R.D.3
-
45
-
-
0016752913
-
Pregnancy in penicillamine-treated patients with Wilson's disease
-
Scheinberg IH, Sternlieb I. Pregnancy in penicillamine-treated patients with Wilson's disease. N Engl J Med 1975;293:1300-2.
-
(1975)
N Engl J Med
, vol.293
, pp. 1300-1302
-
-
Scheinberg, I.H.1
Sternlieb, I.2
-
46
-
-
0017331429
-
Pregnancy in Wilson's disease
-
Walshe JM. Pregnancy in Wilson's disease. Q J Med 1977;46:73-83.
-
(1977)
Q J Med
, vol.46
, pp. 73-83
-
-
Walshe, J.M.1
-
47
-
-
0025980836
-
Fulminant hepatic failure during perinatal period in a pregnant woman with Wilson's disease
-
Shimono N, Ishibashi H, Ikematsu H, et al. Fulminant hepatic failure during perinatal period in a pregnant woman with Wilson's disease. Gastroenterol Jpn 1991;26:69-73.
-
(1991)
Gastroenterol Jpn
, vol.26
, pp. 69-73
-
-
Shimono, N.1
Ishibashi, H.2
Ikematsu, H.3
-
48
-
-
0024536519
-
Variations in the composition of breast milk in Wilson's disease
-
Bunke H, Cario WR, Schneider M. Variations in the composition of breast milk in Wilson's disease. Kinderarztl Prax 1989;57:89-92.
-
(1989)
Kinderarztl Prax
, vol.57
, pp. 89-92
-
-
Bunke, H.1
Cario, W.R.2
Schneider, M.3
-
49
-
-
0345131727
-
Cerebral manifestation of Wilson's disease successfully treated with liver transplantation
-
Bax RT, Hassler A, Luck W, et al. Cerebral manifestation of Wilson's disease successfully treated with liver transplantation. Neurology 1998;51:863-5.
-
(1998)
Neurology
, vol.51
, pp. 863-865
-
-
Bax, R.T.1
Hassler, A.2
Luck, W.3
-
50
-
-
0031735648
-
Recovery of neurological deficits in a case of Wilson's disease after liver transplantation
-
Lui CC, Chen CL, Cheng YF, Lee TY. Recovery of neurological deficits in a case of Wilson's disease after liver transplantation. Transplant Proc 1998;30:3324-5.
-
(1998)
Transplant Proc
, vol.30
, pp. 3324-3325
-
-
Lui, C.C.1
Chen, C.L.2
Cheng, Y.F.3
Lee, T.Y.4
-
51
-
-
0034057314
-
Effect of liver transplantation on neurological manifestations in Wilson disease
-
Stracciari A, Tempestini A, Borghi A, Guarino M. Effect of liver transplantation on neurological manifestations in Wilson disease. Arch Neurol 2000;57:384-6.
-
(2000)
Arch Neurol
, vol.57
, pp. 384-386
-
-
Stracciari, A.1
Tempestini, A.2
Borghi, A.3
Guarino, M.4
-
52
-
-
0037446761
-
Liver transplantation for Wilson's disease: Long-term results and quality-of-life assessment
-
Sutcliffe RP, Maguire DD, Muiesan P, et al. Liver transplantation for Wilson's disease: longterm results and quality-of-life assessment. Transplantation 2003;75:1003-6.
-
(2003)
Transplantation
, vol.75
, pp. 1003-1006
-
-
Sutcliffe, R.P.1
Maguire, D.D.2
Muiesan, P.3
-
53
-
-
0036300936
-
Hepatic copper concentration in children undergoing living related liver transplantation due to Wilsonian fulminant hepatic failure
-
Komatsu H, Fujisawa T, Inui A, et al. Hepatic copper concentration in children undergoing living related liver transplantation due to Wilsonian fulminant hepatic failure. Clin Transplant 2002;16:227-32.
-
(2002)
Clin Transplant
, vol.16
, pp. 227-232
-
-
Komatsu, H.1
Fujisawa, T.2
Inui, A.3
-
54
-
-
0035116099
-
Hemochromatosis: Diagnosis and management
-
Bacon BR. Hemochromatosis: diagnosis and management. Gastroenterology 2001;120:718-25.
-
(2001)
Gastroenterology
, vol.120
, pp. 718-725
-
-
Bacon, B.R.1
-
55
-
-
0032955556
-
Molecular medicine and hemochromatosis: At the crossroads
-
Bacon BR, Powell LW, Adams PC, Kresina TF, Hoofnagle JH. Molecular medicine and hemochromatosis: at the crossroads. Gastroenterology 1999;116:193-207.
-
(1999)
Gastroenterology
, vol.116
, pp. 193-207
-
-
Bacon, B.R.1
Powell, L.W.2
Adams, P.C.3
Kresina, T.F.4
Hoofnagle, J.H.5
-
56
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
-
(1996)
Nat Genet
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
-
57
-
-
0001943837
-
Copper and iron storage diseases
-
Suchy F, Balistreri W, editors. Philadelphia: Lippincott, Williams & Wilkins
-
Sokol R. Copper and iron storage diseases. In: Suchy F, Balistreri W, editors. Liver disease in children. 2nd edition. Philadelphia: Lippincott, Williams & Wilkins; 2001. p. 595-640.
-
(2001)
Liver Disease in Children. 2nd Edition
, pp. 595-640
-
-
Sokol, R.1
-
58
-
-
0028049495
-
Regulators of iron balance in humans
-
Finch C. Regulators of iron balance in humans. Blood 1994;84:1697-702.
-
(1994)
Blood
, vol.84
, pp. 1697-1702
-
-
Finch, C.1
-
59
-
-
0036237817
-
Molecular aspects of iron absorption: Insights into the role of HFE in hemochromatosis
-
Philpott CC. Molecular aspects of iron absorption: insights into the role of HFE in hemochromatosis. Hepatology 2002;35:993-1001.
-
(2002)
Hepatology
, vol.35
, pp. 993-1001
-
-
Philpott, C.C.1
-
60
-
-
0030624029
-
Regulation of iron metabolism in eukaryotes
-
Rouault T, Klausner R. Regulation of iron metabolism in eukaryotes. Curr Top Cell Regul 1997;35:1-19.
-
(1997)
Curr Top Cell Regul
, vol.35
, pp. 1-19
-
-
Rouault, T.1
Klausner, R.2
-
61
-
-
0019215978
-
In vitro studies of duodenal iron uptake in patients with primary and secondary iron storage disease
-
Cox TM, Peters TJ. In vitro studies of duodenal iron uptake in patients with primary and secondary iron storage disease. Q J Med 1980;49:249-57.
-
(1980)
Q J Med
, vol.49
, pp. 249-257
-
-
Cox, T.M.1
Peters, T.J.2
-
62
-
-
0018274040
-
Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis
-
Cox TM, Peters TJ. Uptake of iron by duodenal biopsy specimens from patients with irondeficiency anaemia and primary haemochromatosis. Lancet 1978;1:123-4.
-
(1978)
Lancet
, vol.1
, pp. 123-124
-
-
Cox, T.M.1
Peters, T.J.2
-
63
-
-
0036196205
-
Mechanisms of iron accumulation in hereditary hemochromatosis
-
Fleming RE, Sly WS. Mechanisms of iron accumulation in hereditary hemochromatosis. Annu Rev Physiol 2002;64:663-80.
-
(2002)
Annu Rev Physiol
, vol.64
, pp. 663-680
-
-
Fleming, R.E.1
Sly, W.S.2
-
64
-
-
0036727925
-
Hepcidin expression inversely correlates with the expression of duodenal iron transporters and iron absorption in rats
-
Frazer DM, Wilkins SJ, Becker EM, et al. Hepcidin expression inversely correlates with the expression of duodenal iron transporters and iron absorption in rats. Gastroenterology 2002;123:835-44.
-
(2002)
Gastroenterology
, vol.123
, pp. 835-844
-
-
Frazer, D.M.1
Wilkins, S.J.2
Becker, E.M.3
-
65
-
-
0035902605
-
Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
-
Nicolas G, Bennoun M, Devaux I, et al. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A 2001;98:8780-5.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 8780-8785
-
-
Nicolas, G.1
Bennoun, M.2
Devaux, I.3
-
67
-
-
0031002910
-
Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract
-
Parkkila S, Waheed A, Britton RS, et al. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci U S A 1997;94:2534-9.
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 2534-2539
-
-
Parkkila, S.1
Waheed, A.2
Britton, R.S.3
-
68
-
-
0035213540
-
Molecular aspects of iron absorption and HFE expression
-
Parkkila S, Niemela O, Britton RS, et al. Molecular aspects of iron absorption and HFE expression. Gastroenterology 2001;121:1489-96.
-
(2001)
Gastroenterology
, vol.121
, pp. 1489-1496
-
-
Parkkila, S.1
Niemela, O.2
Britton, R.S.3
-
69
-
-
0037117603
-
Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse
-
Trinder D, Olynyk JK, Sly WS, Morgan EH. Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse. Proc Natl Acad Sci U S A 2002;99:5622-6.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 5622-5626
-
-
Trinder, D.1
Olynyk, J.K.2
Sly, W.S.3
Morgan, E.H.4
-
71
-
-
0344085880
-
Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis
-
Zoller H, Pietrangelo A, Vogel W, Weiss G. Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis. Lancet 1999;353:2120-3.
-
(1999)
Lancet
, vol.353
, pp. 2120-2123
-
-
Zoller, H.1
Pietrangelo, A.2
Vogel, W.3
Weiss, G.4
-
72
-
-
0036182842
-
Inactivation of the hemochromatosis gene differentially regulates duodenal expression of iron-related mRNAs between mouse strains
-
Dupic F, Fruchon S, Bensaid M, et al. Inactivation of the hemochromatosis gene differentially regulates duodenal expression of iron-related mRNAs between mouse strains. Gastroenterology 2002;122:745-51.
-
(2002)
Gastroenterology
, vol.122
, pp. 745-751
-
-
Dupic, F.1
Fruchon, S.2
Bensaid, M.3
-
73
-
-
13044317291
-
Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: Increased duodenal expression of the iron transporter DMT1
-
Fleming RE, Migas MC, Zhou X, et al. Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. Proc Natl Acad Sci U S A 1999;96:3143-8.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 3143-3148
-
-
Fleming, R.E.1
Migas, M.C.2
Zhou, X.3
-
74
-
-
0017698209
-
Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing
-
Simon M, Bourel M, Genetet B, Fauchet R. Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med 1977;297:1017-21.
-
(1977)
N Engl J Med
, vol.297
, pp. 1017-1021
-
-
Simon, M.1
Bourel, M.2
Genetet, B.3
Fauchet, R.4
-
75
-
-
17644434333
-
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression
-
Feder JN, Tsuchihashi Z, Irrinki A, et al. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem 1997;272:14025-8.
-
(1997)
J Biol Chem
, vol.272
, pp. 14025-14028
-
-
Feder, J.N.1
Tsuchihashi, Z.2
Irrinki, A.3
-
76
-
-
0030732164
-
Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
-
Waheed A, Parkkila S, Zhou XY, et al. Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Acad Sci U S A 1997;94:12384-9.
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 12384-12389
-
-
Waheed, A.1
Parkkila, S.2
Zhou, X.Y.3
-
77
-
-
0033795335
-
HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis
-
Distante S, Berg JP, Lande K, Haug E, Bell H. HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis. Gut 2000;47:575-9.
-
(2000)
Gut
, vol.47
, pp. 575-579
-
-
Distante, S.1
Berg, J.P.2
Lande, K.3
Haug, E.4
Bell, H.5
-
78
-
-
0031969395
-
Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation
-
Crawford DH, Jazwinska EC, Cullen LM, Powell LW. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology 1998;114:1003-8.
-
(1998)
Gastroenterology
, vol.114
, pp. 1003-1008
-
-
Crawford, D.H.1
Jazwinska, E.C.2
Cullen, L.M.3
Powell, L.W.4
-
79
-
-
0030884018
-
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis
-
Rhodes DA, Raha-Chowdhury R, Cox TM, Trowsdale J. Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J Med Genet 1997;34:761-4.
-
(1997)
J Med Genet
, vol.34
, pp. 761-764
-
-
Rhodes, D.A.1
Raha-Chowdhury, R.2
Cox, T.M.3
Trowsdale, J.4
-
82
-
-
0037132786
-
Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
-
Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-8.
-
(2002)
Lancet
, vol.359
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
Ho, N.J.4
Gelbart, T.5
-
83
-
-
0023847665
-
Hereditary hemochromatosis in children, adolescents, and young adults
-
Haddy TB, Castro OL, Rana SR. Hereditary hemochromatosis in children, adolescents, and young adults. Am J Pediatr Hematol Oncol 1988;10:23-34.
-
(1988)
Am J Pediatr Hematol Oncol
, vol.10
, pp. 23-34
-
-
Haddy, T.B.1
Castro, O.L.2
Rana, S.R.3
-
84
-
-
0030957346
-
Hereditary hemochromatosis: Presentation and diagnosis in the 1990s
-
Bacon BR, Sadiq SA. Hereditary hemochromatosis: presentation and diagnosis in the 1990s. Am J Gastroenterol 1997;92:784-9.
-
(1997)
Am J Gastroenterol
, vol.92
, pp. 784-789
-
-
Bacon, B.R.1
Sadiq, S.A.2
-
85
-
-
0005600868
-
A simple genetic test identifies 90% of UK patients with haemochromatosis
-
The UK Haemochromatosis Consortium
-
A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium. Gut 1997;41:841-4.
-
(1997)
Gut
, vol.41
, pp. 841-844
-
-
-
87
-
-
0023901798
-
Prevalence of hemochromatosis among 11,065 presumably healthy blood donors
-
Edwards CQ, Griffen LM, Goldgar D, et al. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988;318:1355-62.
-
(1988)
N Engl J Med
, vol.318
, pp. 1355-1362
-
-
Edwards, C.Q.1
Griffen, L.M.2
Goldgar, D.3
-
88
-
-
0031936407
-
Distribution of transferrin saturation in an Australian population: Relevance to the early diagnosis of hemochromatosis
-
McLaren CE, McLachlan GJ, Halliday JW, et al. Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis. Gastroenterology 1998;114:543-9.
-
(1998)
Gastroenterology
, vol.114
, pp. 543-549
-
-
McLaren, C.E.1
McLachlan, G.J.2
Halliday, J.W.3
-
89
-
-
84942476530
-
Cost-effectiveness of screening for hereditary hemochromatosis
-
Phatak PD, Guzman G, Woll JE, Robeson A, Phelps CE. Cost-effectiveness of screening for hereditary hemochromatosis. Arch Intern Med 1994;154:769-76.
-
(1994)
Arch Intern Med
, vol.154
, pp. 769-776
-
-
Phatak, P.D.1
Guzman, G.2
Woll, J.E.3
Robeson, A.4
Phelps, C.E.5
-
90
-
-
0033564146
-
HFE genotype in patients with hemochromatosis and other liver diseases
-
Bacon BR, Olynyk JK, Brunt EM, Britton RS, Wolff RK. HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med 1999;130:953-62.
-
(1999)
Ann Intern Med
, vol.130
, pp. 953-962
-
-
Bacon, B.R.1
Olynyk, J.K.2
Brunt, E.M.3
Britton, R.S.4
Wolff, R.K.5
-
91
-
-
0031707469
-
Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis
-
Guyader D, Jacquelinet C, Moirand R, et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 1998;115:929-36.
-
(1998)
Gastroenterology
, vol.115
, pp. 929-936
-
-
Guyader, D.1
Jacquelinet, C.2
Moirand, R.3
-
92
-
-
0033999750
-
Broadsheet number 54. Hereditary hemochromatosis
-
Powell LW. Broadsheet number 54. Hereditary hemochromatosis. Pathology 2000;32:24-36.
-
(2000)
Pathology
, vol.32
, pp. 24-36
-
-
Powell, L.W.1
-
93
-
-
0033932289
-
Histological evaluation of iron in liver biopsies: Relationship to HFE mutations
-
Brunt EM, Olynyk JK, Britton RS, et al. Histological evaluation of iron in liver biopsies: relationship to HFE mutations. Am J Gastroenterol 2000;95:1788-93.
-
(2000)
Am J Gastroenterol
, vol.95
, pp. 1788-1793
-
-
Brunt, E.M.1
Olynyk, J.K.2
Britton, R.S.3
-
94
-
-
0033050583
-
Screening blood donors for hereditary hemochromatosis: Decision analysis model comparing genotyping to phenotyping
-
Adams PC, Valberg LS. Screening blood donors for hereditary hemochromatosis: decision analysis model comparing genotyping to phenotyping. Am J Gastroenterol 1999;94:1593-600.
-
(1999)
Am J Gastroenterol
, vol.94
, pp. 1593-1600
-
-
Adams, P.C.1
Valberg, L.S.2
-
95
-
-
0033014913
-
Screening for hemochromatosis: Phenotyping or genotyping or both?
-
Tavill AS. Screening for hemochromatosis: phenotyping or genotyping or both? Am J Gastroenterol 1999;94:1430-3.
-
(1999)
Am J Gastroenterol
, vol.94
, pp. 1430-1433
-
-
Tavill, A.S.1
-
97
-
-
0035038147
-
Diagnosis and management of hemochromatosis
-
Tavill AS. Diagnosis and management of hemochromatosis. Hepatology 2001;33:1321-8.
-
(2001)
Hepatology
, vol.33
, pp. 1321-1328
-
-
Tavill, A.S.1
-
98
-
-
0031030733
-
The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis
-
Adams PC, Deugnier Y, Moirand R, Brissot P. The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology 1997;25:162-6.
-
(1997)
Hepatology
, vol.25
, pp. 162-166
-
-
Adams, P.C.1
Deugnier, Y.2
Moirand, R.3
Brissot, P.4
-
99
-
-
0029913626
-
Long-term survival in patients with hereditary hemochromatosis
-
Niederau C, Fischer R, Purschel A, et al. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996;110:1107-19.
-
(1996)
Gastroenterology
, vol.110
, pp. 1107-1119
-
-
Niederau, C.1
Fischer, R.2
Purschel, A.3
-
100
-
-
0027459086
-
Primary liver cancer in genetic hemochromatosis: A clinical, pathological, and pathogenetic study of 54 cases
-
Deugnier YM, Guyader D, Crantock L, et al. Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases. Gastroenterology 1993;104:228-34.
-
(1993)
Gastroenterology
, vol.104
, pp. 228-234
-
-
Deugnier, Y.M.1
Guyader, D.2
Crantock, L.3
-
101
-
-
0036075097
-
Natural history of juvenile haemochromatosis
-
De Gobbi M, Roetto A, Piperno A, et al. Natural history of juvenile haemochromatosis. Br J Haematol 2002;117:973-9.
-
(2002)
Br J Haematol
, vol.117
, pp. 973-979
-
-
De Gobbi, M.1
Roetto, A.2
Piperno, A.3
-
102
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
Roetto A. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003;33(1):21-2.
-
(2003)
Nat Genet
, vol.33
, Issue.1
, pp. 21-22
-
-
Roetto, A.1
-
103
-
-
0032531982
-
Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder
-
Cazzola M, Cerani P, Rovati A, et al. Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder. Blood 1998;92:2979-81.
-
(1998)
Blood
, vol.92
, pp. 2979-2981
-
-
Cazzola, M.1
Cerani, P.2
Rovati, A.3
|