-
1
-
-
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 1987;37:761-767.
-
(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
-
2
-
-
0000852301
-
Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease)
-
Scheinberg IH, Gitlin D. Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease). Science 1952;116:484-485.
-
(1952)
Science
, vol.116
, pp. 484-485
-
-
Scheinberg, I.H.1
Gitlin, D.2
-
3
-
-
0035185245
-
Iron accumulation in the liver of male patients with Wilson's disease
-
Shiono Y, Wakusawa S, Hayashi H, Takikawa T, Yano M, Okada T, Mabuchi H, Kono S, Miyajima H. Iron accumulation in the liver of male patients with Wilson's disease. Am J Gastroenterol 2001;96:3147-3151.
-
(2001)
Am J Gastroenterol
, vol.96
, pp. 3147-3151
-
-
Shiono, Y.1
Wakusawa, S.2
Hayashi, H.3
Takikawa, T.4
Yano, M.5
Okada, T.6
Mabuchi, H.7
Kono, S.8
Miyajima, H.9
-
4
-
-
9344224529
-
A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, 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, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK. A novel MHC class 1-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
Tsuchihashi, Z.4
Ruddy, D.A.5
Basava, A.6
Dormishian, F.7
Domingo Jr., 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
Schatzman, R.C.28
Brunke, K.J.29
Drayna, D.T.30
Risch, N.J.31
Bacon, B.R.32
Wolff, R.K.33
more..
-
5
-
-
0034071017
-
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease
-
Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Takeda Y, Yano M, Michitaka K, Onji M, Mabuchi H. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Hum Mutat 2000;15:454-462.
-
(2000)
Hum Mutat
, vol.15
, pp. 454-462
-
-
Okada, T.1
Shiono, Y.2
Hayashi, H.3
Satoh, H.4
Sawada, T.5
Suzuki, A.6
Takeda, Y.7
Yano, M.8
Michitaka, K.9
Onji, M.10
Mabuchi, H.11
-
6
-
-
0021519069
-
Electron probe X-ray analysis on human hepatocellular lysosomes with copper deposits: Copper binding to a thiol-protein in lysosomes
-
Hanaichi T, Kidokoro R, Hayashi H, Sakamoto N. Electron probe X-ray analysis on human hepatocellular lysosomes with copper deposits: copper binding to a thiol-protein in lysosomes. Lab Invest 1984;51:592-597.
-
(1984)
Lab Invest
, vol.51
, pp. 592-597
-
-
Hanaichi, T.1
Kidokoro, R.2
Hayashi, H.3
Sakamoto, N.4
-
7
-
-
0032508265
-
Effect of treatment of Wilson's disease on natural history of haemochromatosis
-
Walshe JM, Cox DW. Effect of treatment of Wilson's disease on natural history of haemochromatosis. Lancet 1998;352:112-113.
-
(1998)
Lancet
, vol.352
, pp. 112-113
-
-
Walshe, J.M.1
Cox, D.W.2
-
8
-
-
0032238955
-
Mutations of A TP7B in Wilson's disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population
-
Yamaguchi A, Matsuura A, Arashima S, Kiuchi Y, Kiuchi K. Mutations of A TP7B in Wilson's disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. Hum Mutat 1998;S1:S320-S322.
-
(1998)
Hum Mutat
, vol.S1
-
-
Yamaguchi, A.1
Matsuura, A.2
Arashima, S.3
Kiuchi, Y.4
Kiuchi, K.5
-
9
-
-
0034071017
-
Mutational analysis of A TP7B and genotype-phenotype correlation in Japanese with Wilso7S disease
-
Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Takeda Y, Yano M, Michitaka K, Onji M, Mabuchi H. Mutational analysis of A TP7B and genotype-phenotype correlation in Japanese with Wilso7S disease. Hum Mutat 2000;15:454-462.
-
(2000)
Hum Mutat
, vol.15
, pp. 454-462
-
-
Okada, T.1
Shiono, Y.2
Hayashi, H.3
Satoh, H.4
Sawada, T.5
Suzuki, A.6
Takeda, Y.7
Yano, M.8
Michitaka, K.9
Onji, M.10
Mabuchi, H.11
-
11
-
-
0035460063
-
C282Y and H63D mutations in the HFE gene have no effect on iron overload disorders in Japan
-
Shiono Y, Ikeda R, Hayashi H, Wakusawa S, Sanae F, Takikawa T, Imaizumi Y, Yoshioka K, Kawanaka M, Yamada G. C282Y and H63D mutations in the HFE gene have no effect on iron overload disorders in Japan. Intern Med 2001;40:852-856.
-
(2001)
Intern Med
, vol.40
, pp. 852-856
-
-
Shiono, Y.1
Ikeda, R.2
Hayashi, H.3
Wakusawa, S.4
Sanae, F.5
Takikawa, T.6
Imaizumi, Y.7
Yoshioka, K.8
Kawanaka, M.9
Yamada, G.10
-
12
-
-
0032909207
-
Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse
-
Vulpe CD, Kuo YM, Murphy TL, Cowley L, Ashwith C, Lobina N, Gitschier J, Anderson GJ. Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nat Genet 1999;21:195-199.
-
(1999)
Nat Genet
, vol.21
, pp. 195-199
-
-
Vulpe, C.D.1
Kuo, Y.M.2
Murphy, T.L.3
Cowley, L.4
Ashwith, C.5
Lobina, N.6
Gitschier, J.7
Anderson, G.J.8
-
13
-
-
0002033589
-
Hepatic iron storage in patients with chronic hepatitis C but no hepatic iron detectable histochemically
-
Yano M, Hayashi H, Wakusawa S, Takikawa T, Arai N, Ikeda R. Hepatic iron storage in patients with chronic hepatitis C but no hepatic iron detectable histochemically. Med Electron Microsc 1997;30:70-75.
-
(1997)
Med Electron Microsc
, vol.30
, pp. 70-75
-
-
Yano, M.1
Hayashi, H.2
Wakusawa, S.3
Takikawa, T.4
Arai, N.5
Ikeda, R.6
|