-
1
-
-
0029922316
-
Evolving expression of hemochromatosis
-
Adams PC, Valdberg LS (1996) Evolving expression of hemochromatosis. Semin Liver Dis 16:47-54
-
(1996)
Semin Liver Dis
, vol.16
, pp. 47-54
-
-
Adams, P.C.1
Valdberg, L.S.2
-
2
-
-
0025157647
-
The pathology of hepatic iron overload: A free radical-mediated process?
-
Bacon BR, Britton RS (1990) The pathology of hepatic iron overload: A free radical-mediated process? Hepatology 11:127-137
-
(1990)
Hepatology
, vol.11
, pp. 127-137
-
-
Bacon, B.R.1
Britton, R.S.2
-
3
-
-
0030221927
-
Mutation analysis in hereditary hemochromatosis
-
Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, Kosty M, Venditti CP, Phatak PD, Seese NK, Chorney KA, Ten Elshof AE, Gerhard GS, Chorney M (1996) Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 22:187-194
-
(1996)
Blood Cells Mol Dis
, vol.22
, pp. 187-194
-
-
Beutler, E.1
Gelbart, T.2
West, C.3
Lee, P.4
Adams, M.5
Blackstone, R.6
Pockros, P.7
Kosty, M.8
Venditti, C.P.9
Phatak, P.D.10
Seese, N.K.11
Chorney, K.A.12
Ten Elshof, A.E.13
Gerhard, G.S.14
Chorney, M.15
-
4
-
-
0031037009
-
Genetic beyond haemochromatosis: Clinical effects of HLA-H mutations
-
Beutler E (1997) Genetic beyond haemochromatosis: Clinical effects of HLA-H mutations. Lancet 349:296-297
-
(1997)
Lancet
, vol.349
, pp. 296-297
-
-
Beutler, E.1
-
5
-
-
0020823808
-
Treatment of Wilson's disease with zinc
-
Brewer GJ, Hill GJ, Prasad AS, Cossack ZT, Rabbani P (1983) Treatment of Wilson's disease with zinc. Ann Intern Med 99:314-319
-
(1983)
Ann Intern Med
, vol.99
, pp. 314-319
-
-
Brewer, G.J.1
Hill, G.J.2
Prasad, A.S.3
Cossack, Z.T.4
Rabbani, P.5
-
6
-
-
0023178114
-
Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy
-
Brewer GJ, Terry CA, Aisen AM, Hill GM (1987) Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol 44:490-493
-
(1987)
Arch Neurol
, vol.44
, pp. 490-493
-
-
Brewer, G.J.1
Terry, C.A.2
Aisen, A.M.3
Hill, G.M.4
-
8
-
-
0029120836
-
Practical recommendations and new therapies for Wilson's disease
-
Brewer GJ (1995) Practical recommendations and new therapies for Wilson's disease. Drugs 50:240-249
-
(1995)
Drugs
, vol.50
, pp. 240-249
-
-
Brewer, G.J.1
-
9
-
-
0030985771
-
Neurological improvement of Wilson's disease after liver transplantation
-
Chen GL, Chen YS, Lui CC, Hsu SP (1997) Neurological improvement of Wilson's disease after liver transplantation. Transplant Proc 29:497-498
-
(1997)
Transplant Proc
, vol.29
, pp. 497-498
-
-
Chen, G.L.1
Chen, Y.S.2
Lui, C.C.3
Hsu, S.P.4
-
10
-
-
0021234851
-
Primary hemochromatosis: Anatomic and physiologic characteristics of the cardiac ventricles and their response to phlebotomy
-
Dabestani A, Child JS, Henze E, Perlof JK, Schon H, Figueroa WG, Schelbert RH, Thressomboon S (1984) Primary hemochromatosis: Anatomic and physiologic characteristics of the cardiac ventricles and their response to phlebotomy. Am J Cardiol 54:153-159
-
(1984)
Am J Cardiol
, vol.54
, pp. 153-159
-
-
Dabestani, A.1
Child, J.S.2
Henze, E.3
Perlof, J.K.4
Schon, H.5
Figueroa, W.G.6
Schelbert, R.H.7
Thressomboon, S.8
-
11
-
-
0029162533
-
Longterm treatment of Wilson's disease with triethylene tetramine dihydrochloride (trientine)
-
Dahlmann T, Hartvig P, Lofholm M, Nordlinder H, Loof L (1995) Longterm treatment of Wilson's disease with triethylene tetramine dihydrochloride (trientine). QJM 88:609-616
-
(1995)
QJM
, vol.88
, pp. 609-616
-
-
Dahlmann, T.1
Hartvig, P.2
Lofholm, M.3
Nordlinder, H.4
Loof, L.5
-
12
-
-
9344224529
-
A novel MHC class l-like gene is mutated in patients with hereditary haemochromatosis
-
Feder J, Gnirke W, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzmann RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK (1996) A novel MHC class l-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet 13:399-408
-
(1996)
Nature Genet
, vol.13
, pp. 399-408
-
-
Feder, J.1
Gnirke, W.2
Thomas, W.3
Tsuchihashi, Z.4
Ruddy, D.A.5
Basava, A.6
Dormishian, F.7
Domingo, R.8
Ellis, M.C.9
Fullan, A.10
Hinton, L.M.11
Jones, N.L.12
Kimmel, B.E.13
Kronmal, G.S.14
Lauer, P.15
Lee, V.K.16
Loeb, D.B.17
Mapa, F.A.18
McClelland, E.19
Meyer, N.C.20
Mintier, G.A.21
Moeller, N.22
Moore, T.23
Morikang, E.24
Prass, C.E.25
Quintana, L.26
Starnes, S.M.27
Schatzmann, R.C.28
Brunke, K.J.29
Drayna, D.T.30
Risch, N.J.31
Bacon, B.R.32
Wolff, R.K.33
more..
-
13
-
-
13144282684
-
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
-
Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, Tsuchihashi Z, Sigal E, Bjorkman PJ, Schatzman RC (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 95:1472-1477
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 1472-1477
-
-
Feder, J.N.1
Penny, D.M.2
Irrinki, A.3
Lee, V.K.4
Lebron, J.A.5
Watson, N.6
Tsuchihashi, Z.7
Sigal, E.8
Bjorkman, P.J.9
Schatzman, R.C.10
-
14
-
-
0031982247
-
Wilson disease in 1998: Genetic, diagnostic and therapeutic aspects
-
Gollan JL, Gollan TJ (1998) Wilson disease in 1998: Genetic, diagnostic and therapeutic aspects. J Hepatol 28 [Suppl 1]:28-36
-
(1998)
J Hepatol
, vol.28
, Issue.SUPPL. 1
, pp. 28-36
-
-
Gollan, J.L.1
Gollan, T.J.2
-
15
-
-
0019506693
-
The natural history of arthritis in idiopathic hemochromatosis: Progression of the clinical and radiologic features over ten years
-
Hamilton EBD, Bomford AB, Laws JW, Williams R (1982) The natural history of arthritis in idiopathic hemochromatosis: Progression of the clinical and radiologic features over ten years. Quart J Med NS 199:321-329
-
(1982)
Quart J Med NS
, vol.199
, pp. 321-329
-
-
Hamilton, E.B.D.1
Bomford, A.B.2
Laws, J.W.3
Williams, R.4
-
16
-
-
16144368650
-
Haemochromatosis and HLA-H
-
Jouanolle AM, Gandon G, Jézéquel P, Blayau M, Campion ML, Yaouanq J, Mosser J, Fergelot P, Chauvel B, Bouric P, Carn G, Andrieux N, Gicquel I, Le Gall J-Y, David V (1996) Haemochromatosis and HLA-H. Nat Genet 14:251-252
-
(1996)
Nat Genet
, vol.14
, pp. 251-252
-
-
Jouanolle, A.M.1
Gandon, G.2
Jézéquel, P.3
Blayau, M.4
Campion, M.L.5
Yaouanq, J.6
Mosser, J.7
Fergelot, P.8
Chauvel, B.9
Bouric, P.10
Carn, G.11
Andrieux, N.12
Gicquel, I.13
Le Gall, J.-Y.14
David, V.15
-
17
-
-
0030859515
-
Utility of hepatic iron index in American patients with hereditary hemochromatosis: A multicenter study
-
Kowdley KV, Trainer TD, Saltzman JR, Pedrosa M, Krawitt EL, Knox TA, Susskind K, Pratt D, Bonkovsky HL, Grace ND, Kaplan MM (1997) Utility of hepatic iron index in American patients with hereditary hemochromatosis: A multicenter study. Gastroenterology 113:1270-1277
-
(1997)
Gastroenterology
, vol.113
, pp. 1270-1277
-
-
Kowdley, K.V.1
Trainer, T.D.2
Saltzman, J.R.3
Pedrosa, M.4
Krawitt, E.L.5
Knox, T.A.6
Susskind, K.7
Pratt, D.8
Bonkovsky, H.L.9
Grace, N.D.10
Kaplan, M.M.11
-
18
-
-
0028109865
-
The liver biopsy diagnosis of Wilson's disease. Methods in pathology
-
Ludwig J, Moyer TP, Rakela J (1991) The liver biopsy diagnosis of Wilson's disease. Methods in pathology. Am J Clin Pathol 102:443-446
-
(1991)
Am J Clin Pathol
, vol.102
, pp. 443-446
-
-
Ludwig, J.1
Moyer, T.P.2
Rakela, J.3
-
19
-
-
0345172216
-
Intracellular transport blockade caused by disruption of the disulfid bridge in the third external domain of major histocompatibility complex class I antigen
-
Miyazaki JI, Apella E, Ozato K (1996) Intracellular transport blockade caused by disruption of the disulfid bridge in the third external domain of major histocompatibility complex class I antigen. Proc Nat Acad Sci USA 83:757-761
-
(1996)
Proc Nat Acad Sci USA
, vol.83
, pp. 757-761
-
-
Miyazaki, J.I.1
Apella, E.2
Ozato, K.3
-
20
-
-
0022368621
-
Survival and causes of death in cirrhotic and noncirrhotic patients with primary hemochromatosis
-
Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch HJ, Strohmeyer G (1985) Survival and causes of death in cirrhotic and noncirrhotic patients with primary hemochromatosis. N Engl J Med 313:1256-1262
-
(1985)
N Engl J Med
, vol.313
, pp. 1256-1262
-
-
Niederau, C.1
Fischer, R.2
Sonnenberg, A.3
Stremmel, W.4
Trampisch, H.J.5
Strohmeyer, G.6
-
21
-
-
0029913626
-
Long-term survival in patients with hereditary hemochromatosis
-
Niederau C, Fischer R, Pürschel A, Stremmel W, Häussinger D, Strohmeyer G (1996) Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 110:1107-1119
-
(1996)
Gastroenterology
, vol.110
, pp. 1107-1119
-
-
Niederau, C.1
Fischer, R.2
Pürschel, A.3
Stremmel, W.4
Häussinger, D.5
Strohmeyer, G.6
-
22
-
-
0025739298
-
Neurological and neuropsychiatric spectrum of Wilson's disease: A prospective study of 45 cases
-
Oder W, Grimm G, Kollegger H, Ferenci P, Schneider B, Deecke L (1991) Neurological and neuropsychiatric spectrum of Wilson's disease: A prospective study of 45 cases. J Neurol 238:281-287
-
(1991)
J Neurol
, vol.238
, pp. 281-287
-
-
Oder, W.1
Grimm, G.2
Kollegger, H.3
Ferenci, P.4
Schneider, B.5
Deecke, L.6
-
23
-
-
0030712463
-
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis
-
Parkkila S, Waheed A, Britton RS, Bacon BR, Zhou XY, Tomatsu S, Fleming RE, Sly WS (1997) Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci USA 94:13198-13202
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 13198-13202
-
-
Parkkila, S.1
Waheed, A.2
Britton, R.S.3
Bacon, B.R.4
Zhou, X.Y.5
Tomatsu, S.6
Fleming, R.E.7
Sly, W.S.8
-
24
-
-
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 (1998) Functional expression of the Wilson disease protein reveals mislocalization and impaired copper dependent trafficking of the common H1069Q mutation. Proc Natl Acad Sci USA 95:10854-10859
-
(1998)
Proc Natl Acad Sci Usa
, vol.95
, pp. 10854-10859
-
-
Payne, A.S.1
Kelly, E.J.2
Gitlin, J.D.3
-
25
-
-
0031957721
-
Heterogeneity of hemochromatosis in Italy
-
Piperno A, Sampietro M, Pietrangelo A, Arosio C, Lupica L, Montosi G, Vergani A, Fraquelli M, Girelli D, Pasquero P, Roetto A, Gasparini P, Fargion S, Conte D, Camaschella C (1998) Heterogeneity of hemochromatosis in Italy. Gastroenterology 114:996-1002
-
(1998)
Gastroenterology
, vol.114
, pp. 996-1002
-
-
Piperno, A.1
Sampietro, M.2
Pietrangelo, A.3
Arosio, C.4
Lupica, L.5
Montosi, G.6
Vergani, A.7
Fraquelli, M.8
Girelli, D.9
Pasquero, P.10
Roetto, A.11
Gasparini, P.12
Fargion, S.13
Conte, D.14
Camaschella, C.15
-
26
-
-
0027233998
-
Orthotopic liver transplantation for hepatic complications of Wilson's disease
-
Rela M, Heaton ND, Vougas V, McEntee G, Gane E, Farhat B, Chiyende J, Mieli-Vergani G, Mowat AP, Portmann B (1993) Orthotopic liver transplantation for hepatic complications of Wilson's disease. Br J Surg 80:909-911
-
(1993)
Br J Surg
, vol.80
, pp. 909-911
-
-
Rela, M.1
Heaton, N.D.2
Vougas, V.3
McEntee, G.4
Gane, E.5
Farhat, B.6
Chiyende, J.7
Mieli-Vergani, G.8
Mowat, A.P.9
Portmann, B.10
-
27
-
-
0028488302
-
Klonierung des morbus-Wilson-gens
-
Riedel HD, Fitscher BA, Hefter H, Stohmeyer G, Stremmel W (1994) Klonierung des morbus-Wilson-gens. Z Gastroenterol 32:472-473
-
(1994)
Z Gastroenterol
, vol.32
, pp. 472-473
-
-
Riedel, H.D.1
Fitscher, B.A.2
Hefter, H.3
Stohmeyer, G.4
Stremmel, W.5
-
28
-
-
0031739963
-
Aktuelle aspekte zur pathogenese des morbus Wilson
-
Schäfer M (1998) Aktuelle aspekte zur pathogenese des morbus Wilson. Verdauungskrankheiten 16:237-241
-
(1998)
Verdauungskrankheiten
, vol.16
, pp. 237-241
-
-
Schäfer, M.1
-
29
-
-
0001488222
-
Genetic disorders of copper transport
-
in press
-
Schaefer M, Gitlin JD (1999) Genetic disorders of copper transport. Am J Physiol (in press)
-
(1999)
Am J Physiol
-
-
Schaefer, M.1
Gitlin, J.D.2
-
30
-
-
0029874633
-
Wilson disease: Genetic basis of copper toxicity and natural history
-
Schilsky ML (1996) Wilson disease: Genetic basis of copper toxicity and natural history. Semin Liver Dis 16:83-95
-
(1996)
Semin Liver Dis
, vol.16
, pp. 83-95
-
-
Schilsky, M.L.1
-
31
-
-
0028057852
-
Liver transplantation for Wilson's disease: Indications and outcome
-
Schilsky ML, Scheinberg IH, Sternlieb I (1994) Liver transplantation for Wilson's disease: Indications and outcome. Hepatology 19:583-587
-
(1994)
Hepatology
, vol.19
, pp. 583-587
-
-
Schilsky, M.L.1
Scheinberg, I.H.2
Sternlieb, I.3
-
32
-
-
8244253685
-
Liver transplantation: Treatment of choice for hepatic and neurological manifestation of Wilson's disease
-
Schumacher G, Platz KP, Mueller AR, Neuhaus R, Steinmüller T, Bechstein WO, Becker M, Luck W, Schuelke M, Neuhaus P (1997) Liver transplantation: Treatment of choice for hepatic and neurological manifestation of Wilson's disease. Clin Transplant 11:217-224
-
(1997)
Clin Transplant
, vol.11
, pp. 217-224
-
-
Schumacher, G.1
Platz, K.P.2
Mueller, A.R.3
Neuhaus, R.4
Steinmüller, T.5
Bechstein, W.O.6
Becker, M.7
Luck, W.8
Schuelke, M.9
Neuhaus, P.10
-
33
-
-
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, Ross BM, Das K, Lutsenko S, Parano E, Evgrafov O, Ivanova-Smolenskaya IA, Anneren G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K (1997) Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Gen 61:317-328
-
(1997)
Am J Hum Gen
, vol.61
, pp. 317-328
-
-
Shah, A.B.1
Chernov, I.2
Zhang, H.T.3
Ross, B.M.4
Das, K.5
Lutsenko, S.6
Parano, E.7
Evgrafov, O.8
Ivanova-Smolenskaya, I.A.9
Anneren, G.10
Westermark, K.11
Urrutia, F.H.12
Penchaszadeh, G.K.13
Sternlieb, I.14
Scheinberg, I.H.15
Gilliam, T.C.16
Petrukhin, K.17
-
34
-
-
0017158302
-
Association of HLA-A3 and HLA-B14 antigens wih idiopathic haemochromatosis
-
Simon M, Bourel M, Fauchet R, Genetet B (1976) Association of HLA-A3 and HLA-B14 antigens wih idiopathic haemochromatosis. Gut 17:332-334
-
(1976)
Gut
, vol.17
, pp. 332-334
-
-
Simon, M.1
Bourel, M.2
Fauchet, R.3
Genetet, B.4
-
35
-
-
17344387813
-
Hepatic failure and liver cell damage in acute Wilson's disease involve CD95 (APO-1/Fas) mediated apoptosis
-
Strand S, Hofmann WJ, Grambihler A, Hug H, Volkmann M, Otto G, Wesch H, Mariani SM, Hack V, Stremmel W, Krammer PH, Galle PR (1998) Hepatic failure and liver cell damage in acute Wilson's disease involve CD95 (APO-1/Fas) mediated apoptosis. Nat Med 4:588-593
-
(1998)
Nat Med
, vol.4
, pp. 588-593
-
-
Strand, S.1
Hofmann, W.J.2
Grambihler, A.3
Hug, H.4
Volkmann, M.5
Otto, G.6
Wesch, H.7
Mariani, S.M.8
Hack, V.9
Stremmel, W.10
Krammer, P.H.11
Galle, P.R.12
-
36
-
-
0023769672
-
Abnormalities in estrogen, androgen, insulin metabolism in idiopathic hemochromatosis
-
Stremmel W, Niederau C, Berger M, Kley HK, Krüskemper HL, Strohmeyer G (1988) Abnormalities in estrogen, androgen, insulin metabolism in idiopathic hemochromatosis. Ann NY Acad Sci 526:209-223
-
(1988)
Ann NY Acad Sci
, vol.526
, pp. 209-223
-
-
Stremmel, W.1
Niederau, C.2
Berger, M.3
Kley, H.K.4
Krüskemper, H.L.5
Strohmeyer, G.6
-
37
-
-
0026076817
-
Wilson disease: Clinical presentation, treatment and survival
-
Stremmel W, Meyerrose KM, Niederau C, Hefter H, Kreuzpainter G, Strohmeyer G (1991) Wilson disease: Clinical presentation, treatment and survival. Ann Intern Med 115:720-726
-
(1991)
Ann Intern Med
, vol.115
, pp. 720-726
-
-
Stremmel, W.1
Meyerrose, K.M.2
Niederau, C.3
Hefter, H.4
Kreuzpainter, G.5
Strohmeyer, G.6
-
40
-
-
0030593850
-
Aktuelle diagnostik: Hereditäre stoffwechselerkrankungen der leber (primäre hämochromatose, morbus Wilson)
-
Stremmel W (1996) Aktuelle diagnostik: Hereditäre stoffwechselerkrankungen der leber (primäre hämochromatose, morbus Wilson). Schw Rundsch Med (Praxis) 85:1513-1517
-
(1996)
Schw Rundsch Med (Praxis)
, vol.85
, pp. 1513-1517
-
-
Stremmel, W.1
-
41
-
-
0031960875
-
Human whole-body copper metabolism
-
Turnland JR (1998) Human whole-body copper metabolism. Am J Clin Nutr 67:960S-964S
-
(1998)
Am J Clin Nutr
, vol.67
-
-
Turnland, J.R.1
-
42
-
-
0003319068
-
The liver in Wilson's disease (hepatolenticular degeneration)
-
Schiff L, Schiff ER (eds). Philadelphia: JB Lippincott
-
Walshe JM (1987) The liver in Wilson's disease (hepatolenticular degeneration). In Schiff L, Schiff ER (eds) Diseases of the Liver. 6th Ed. Philadelphia: JB Lippincott, pp 1037-1042
-
(1987)
Diseases of the Liver. 6th Ed.
, pp. 1037-1042
-
-
Walshe, J.M.1
-
44
-
-
0026757031
-
Treatment of Wilson's disease with Zinc X. Intestinal metallothionein induction
-
Yuzbasiyan-Gurkan V, Grider A, Nostrant V, Cousins RJ, Brewer GJ (1992) Treatment of Wilson's disease with Zinc X. Intestinal metallothionein induction. J Lab Clin Med 12:380-386
-
(1992)
J Lab Clin Med
, vol.12
, pp. 380-386
-
-
Yuzbasiyan-Gurkan, V.1
Grider, A.2
Nostrant, V.3
Cousins, R.J.4
Brewer, G.J.5
|