-
1
-
-
0017784141
-
New screening method for Wilson's disease and Menkes' kinky-hair disease
-
Aoki T, Nakahashi M (1977) New screening method for Wilson's disease and Menkes' kinky-hair disease. Lancet 2(8048): 1140.
-
(1977)
Lancet
, vol.2
, Issue.8048
, pp. 1140
-
-
Aoki, T.1
Nakahashi, M.2
-
2
-
-
0024491846
-
Wilson's disease: An update, with emphasis on new approaches to treatment
-
Brewer GJ, Yuzbasiyan-Gurkan V (1989) Wilson's disease: an update, with emphasis on new approaches to treatment. Dig Dis 7: 178-193.
-
(1989)
Dig Dis
, vol.7
, pp. 178-193
-
-
Brewer, G.J.1
Yuzbasiyan-Gurkan, V.2
-
3
-
-
0000386450
-
Disorder of copper transport
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Danks DM (1995) Disorder of copper transport. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2211-2235.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, pp. 2211-2235
-
-
Danks, D.M.1
-
4
-
-
0027937114
-
Measurement of blood holoceruloplasmin by EIa using a mouse monoclonal antibody directed to holoceruloplasmin. Implication for mass screening of Wilson disease
-
Endo F, Taketa K, Nakamura K, Awata H et al (1994) Measurement of blood holoceruloplasmin by EIA using a mouse monoclonal antibody directed to holoceruloplasmin. Implication for mass screening of Wilson disease, J Inher Metab Dis 17: 616-620.
-
(1994)
J Inher Metab Dis
, vol.17
, pp. 616-620
-
-
Endo, F.1
Taketa, K.2
Nakamura, K.3
Awata, H.4
-
5
-
-
0027994635
-
Monoclonal antibody against the active site of caeruloplasmin and the ELISA system detecting active caeruloplasmin
-
Hiyamuta S, Ito K (1994) Monoclonal antibody against the active site of caeruloplasmin and the ELISA system detecting active caeruloplasmin. Hybridoma 13: 139-141.
-
(1994)
Hybridoma
, vol.13
, pp. 139-141
-
-
Hiyamuta, S.1
Ito, K.2
-
6
-
-
0027243262
-
Early diagnosis of Wilson's disease
-
Hiyamuta S, Shimizu K, Aoki T (1993) Early diagnosis of Wilson's disease. Lancet 342(8862): 56-57.
-
(1993)
Lancet
, vol.342
, Issue.8862
, pp. 56-57
-
-
Hiyamuta, S.1
Shimizu, K.2
Aoki, T.3
-
7
-
-
0030971764
-
Haplotype and mutation analysis in Japanese patients with Wilson disease
-
Nanji MS, Nguyen VT, Kawasoe JH, et al (1997) Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 60: 1423-1429.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1423-1429
-
-
Nanji, M.S.1
Nguyen, V.T.2
Kawasoe, J.H.3
-
8
-
-
0344366594
-
A girl with presymptomatic Wilson disease: The ceruloplasmin concentration decreased gradually to the patient's level during infancy
-
Tokyo
-
Ohura T, Kato S, Arashima S, Yamaguchi A, Shiraishi H, Iinuma K (1996) A girl with presymptomatic Wilson disease: the ceruloplasmin concentration decreased gradually to the patient's level during infancy. Abstract for the 39th meeting of the Japanese Society for Inherited Metabolic Diseases, Tokyo, 36.
-
(1996)
Abstract for the 39th meeting of the Japanese Society for Inherited Metabolic Diseases
, pp. 36
-
-
Ohura, T.1
Kato, S.2
Arashima, S.3
Yamaguchi, A.4
Shiraishi, H.5
Iinuma, K.6
-
9
-
-
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, Ross BM, Kaplan JH, Gilliam TC (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 3: 1647-1656.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1647-1656
-
-
Petrukhin, K.1
Lutsenko, S.2
Chernov, I.3
Ross, B.M.4
Kaplan, J.H.5
Gilliam, T.C.6
-
10
-
-
0019805061
-
An assessment of efficiency in potential screening for Wilson's disease
-
Saito T (1981) An assessment of efficiency in potential screening for Wilson's disease. J Epidemiol Community Health 35: 274-280.
-
(1981)
J Epidemiol Community Health
, vol.35
, pp. 274-280
-
-
Saito, T.1
-
11
-
-
0028869945
-
The Wilson disease gene: Spectrum of mutations and their consequences
-
Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW (1995) The Wilson disease gene: spectrum of mutations and their consequences. Nature Genetics 9: 210-217.
-
(1995)
Nature Genetics
, vol.9
, pp. 210-217
-
-
Thomas, G.R.1
Forbes, J.R.2
Roberts, E.A.3
Walshe, J.M.4
Cox, D.W.5
-
12
-
-
0344366593
-
Mutations of ATP7B gene in Wilson disease in Japan: Identification in nine mutations and lack of clear founder effect in a Japanese population
-
Yamaguchi A, Matsuura A, Arashima S, Kikuchi Y, Kikuchi K (1997) Mutations of ATP7B gene in Wilson disease in Japan: identification in nine mutations and lack of clear founder effect in a Japanese population. Hum Mutat Online # 116.
-
(1997)
Hum Mutat Online
, vol.116
-
-
Yamaguchi, A.1
Matsuura, A.2
Arashima, S.3
Kikuchi, Y.4
Kikuchi, K.5
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