-
1
-
-
46249112793
-
Diagnosis and treatment of Wilson disease: An update
-
Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology 47: 2089-2111, 2008.
-
(2008)
Hepatology
, vol.47
, pp. 2089-2111
-
-
Roberts, E.A.1
Schilsky, M.L.2
-
3
-
-
17144458094
-
Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adeno virus bearing WND cDNA
-
Terada K, Nakako T, Yang XL, et al. Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adeno virus bearing WND cDNA. J Biol Chem 273: 1815-1820, 1998.
-
(1998)
J Biol Chem
, vol.273
, pp. 1815-1820
-
-
Terada, K.1
Nakako, T.2
Yang, X.L.3
-
4
-
-
84963072124
-
Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver
-
Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 34: 295-507, 1912.
-
(1912)
Brain
, vol.34
, pp. 295-507
-
-
Wilson, S.A.K.1
-
5
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5: 327-337, 1993.
-
(1993)
Nat Genet
, vol.5
, pp. 327-337
-
-
Bull, P.C.1
Thomas, G.R.2
Rommens, J.M.3
Forbes, J.R.4
Cox, D.W.5
-
6
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5: 344-350, 1993.
-
(1993)
Nat Genet
, vol.5
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
-
7
-
-
0027431996
-
Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
-
Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 197: 271-277, 1993.
-
(1993)
Biochem Biophys Res Commun
, vol.197
, pp. 271-277
-
-
Yamaguchi, Y.1
Heiny, M.E.2
Gitlin, J.D.3
-
8
-
-
0034012479
-
Role of ATP7B in biliary copper excretion in a human hepatoma cell line and normal rat hepatocytes
-
Harada M, Sakisaka S, Terada K, et al. Role of ATP7B in biliary copper excretion in a human hepatoma cell line and normal rat hepatocytes. Gastroenterology 118: 921-928, 2000.
-
(2000)
Gastroenterology
, vol.118
, pp. 921-928
-
-
Harada, M.1
Sakisaka, S.2
Terada, K.3
-
9
-
-
19944433044
-
The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein
-
Harada M, Kawaguchi T, Kumemura H, et al. The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein. Am J Pathol 166: 499-510, 2005.
-
(2005)
Am J Pathol
, vol.166
, pp. 499-510
-
-
Harada, M.1
Kawaguchi, T.2
Kumemura, H.3
-
10
-
-
49749198017
-
Wilson's disease. New oral therapy
-
Walshe JM. Wilson's disease. New oral therapy. Lancet 1: 25-26, 1956.
-
(1956)
Lancet
, vol.1
, pp. 25-26
-
-
Walshe, J.M.1
-
12
-
-
0037354313
-
Aceruloplasminemia, an inherited disorder of iron metabolism
-
Miyajima H, Takahashi Y, Kono S. Aceruloplasminemia, an inherited disorder of iron metabolism. Biometals 16: 205-213, 2003.
-
(2003)
Biometals
, vol.16
, pp. 205-213
-
-
Miyajima, H.1
Takahashi, Y.2
Kono, S.3
-
13
-
-
59149084006
-
Ceruloplasmin in neurodegenerative disease
-
Texel SJ, Xu X, Harris ZL. Ceruloplasmin in neurodegenerative disease. Biochem Soc Trans 36: 1277-1281, 2008.
-
(2008)
Biochem Soc Trans
, vol.36
, pp. 1277-1281
-
-
Texel, S.J.1
Xu, X.2
Harris, Z.L.3
-
14
-
-
0023240051
-
Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration
-
Miyajima H, Nishimura Y, Mizoguchi K, Sakamoto M, Shimizu T, Honda N. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. Neurology 37: 761-767, 1987.
-
(1987)
Neurology
, vol.37
, pp. 761-767
-
-
Miyajima, H.1
Nishimura, Y.2
Mizoguchi, K.3
Sakamoto, M.4
Shimizu, T.5
Honda, N.6
-
15
-
-
0028895749
-
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
-
Yoshida K, Furihata K, Takeda S, et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 9: 267-272, 1995.
-
(1995)
Nat Genet
, vol.9
, pp. 267-272
-
-
Yoshida, K.1
Furihata, K.2
Takeda, S.3
-
16
-
-
0031981976
-
Aceruloplasminemia: An inherited neurodegenerative disease with impairment of iron homeostasis
-
Harris ZL, Klomp LW, Gitlin JD. Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. Am J Clin Nutr 67: 972S-977S, 1998.
-
(1998)
Am J Clin Nutr
, vol.67
-
-
Harris, Z.L.1
Klomp, L.W.2
Gitlin, J.D.3
-
17
-
-
0029883795
-
Copper biochemistry and molecular biology
-
Linder MC, Hazegh-Azam M. Copper biochemistry and molecular biology. Am J Clin Nutr 63: 797S-811S, 1996.
-
(1996)
Am J Clin Nutr
, vol.63
-
-
Linder, M.C.1
Hazegh-Azam, M.2
-
18
-
-
57849160223
-
Niemann-Pick C1 protein transports copper to the secretory compartment from late endosomes where ATP7B resides
-
Yanagimoto C, Harada M, Kumemura H, et al. Niemann-Pick C1 protein transports copper to the secretory compartment from late endosomes where ATP7B resides. Exp Cell Res 315: 119-126, 2009.
-
(2009)
Exp Cell Res
, vol.315
, pp. 119-126
-
-
Yanagimoto, C.1
Harada, M.2
Kumemura, H.3
-
19
-
-
33745761771
-
Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia
-
Kono S, Suzuki H, Takahashi K, et al. Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. Gastroenterology 131: 240-245, 2006.
-
(2006)
Gastroenterology
, vol.131
, pp. 240-245
-
-
Kono, S.1
Suzuki, H.2
Takahashi, K.3
-
20
-
-
34250800318
-
Ferroxidase activity is required for the stability of cell surface ferroportin in cells expressing GPI-ceruloplasmin
-
De Domenico I, Ward DM, di Patti MC, et al. Ferroxidase activity is required for the stability of cell surface ferroportin in cells expressing GPI-ceruloplasmin. EMBO J 26: 2823-2831, 2007.
-
(2007)
EMBO J
, vol.26
, pp. 2823-2831
-
-
de Domenico, I.1
Ward, D.M.2
di Patti, M.C.3
-
21
-
-
77955508573
-
Hereditary hemochromatosis: Pathogenesis, diagnosis, and treatment
-
Pietrangelo A. Hereditary hemochromatosis: Pathogenesis, diagnosis, and treatment. Gastroenterology 139: 393-408, 2010.
-
(2010)
Gastroenterology
, vol.139
, pp. 393-408
-
-
Pietrangelo, A.1
-
22
-
-
0035185245
-
Iron accumulation in the liver of male patients with Wilson's disease
-
Shiono Y, Wakusawa S, Hayashi H, et al. Iron accumulation in the liver of male patients with Wilson's disease. Am J Gastroenterol 96: 3147-3151, 2001.
-
(2001)
Am J Gastroenterol
, vol.96
, pp. 3147-3151
-
-
Shiono, Y.1
Wakusawa, S.2
Hayashi, H.3
-
23
-
-
33748953356
-
Compound overload of copper and iron in patients with Wilson's disease
-
Hayashi H, Yano M, Fujita Y, Wakusawa S. Compound overload of copper and iron in patients with Wilson's disease. Med Mol Morphol 39: 121-126, 2006.
-
(2006)
Med Mol Morphol
, vol.39
, pp. 121-126
-
-
Hayashi, H.1
Yano, M.2
Fujita, Y.3
Wakusawa, S.4
-
24
-
-
10844258104
-
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
-
Nemeth E, Tuttle MS, Powelson J, et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 306: 2090-2093, 2004.
-
(2004)
Science
, vol.306
, pp. 2090-2093
-
-
Nemeth, E.1
Tuttle, M.S.2
Powelson, J.3
-
25
-
-
78649634981
-
Hepcidin in human iron disorders: Therapeutic implications
-
Pietrangelo A. Hepcidin in human iron disorders: Therapeutic implications. J Hepatol 54: 173-181, 2011.
-
(2011)
J Hepatol
, vol.54
, pp. 173-181
-
-
Pietrangelo, A.1
-
26
-
-
0027402579
-
Acquired sideroblastic anaemia during treatment of Wilson's disease with triethylene tetramine dihydrochloride
-
Condamine L, Hermine O, Alvin P, Levine M, Rey C, Courtecuisse V. Acquired sideroblastic anaemia during treatment of Wilson's disease with triethylene tetramine dihydrochloride. Br J Haematol 83: 166-168, 1993.
-
(1993)
Br J Haematol
, vol.83
, pp. 166-168
-
-
Condamine, L.1
Hermine, O.2
Alvin, P.3
Levine, M.4
Rey, C.5
Courtecuisse, V.6
-
27
-
-
0030200021
-
Acquired sideroblastic anaemia induced by a copper-chelating agent
-
Perry AR, Pagliuca A, Fitzsimons EJ, Mufti GJ, Williams R. Acquired sideroblastic anaemia induced by a copper-chelating agent. Int J Hematol 64: 69-72, 1996.
-
(1996)
Int J Hematol
, vol.64
, pp. 69-72
-
-
Perry, A.R.1
Pagliuca, A.2
Fitzsimons, E.J.3
Mufti, G.J.4
Williams, R.5
|