-
1
-
-
80052679496
-
Clinical molecular diagnosis of Wilson disease
-
Bennett J, Hahn SH (2011) Clinical molecular diagnosis of Wilson disease. Semin Liver Dis 31(3):233–238
-
(2011)
Semin Liver Dis
, vol.31
, Issue.3
, pp. 233-238
-
-
Bennett, J.1
Hahn, S.H.2
-
2
-
-
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 (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5(4):327–337
-
(1993)
Nat Genet
, vol.5
, Issue.4
, pp. 327-337
-
-
Bull, P.C.1
Thomas, G.R.2
Rommens, J.M.3
Forbes, J.R.4
Cox, D.W.5
-
3
-
-
33746763794
-
Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry
-
Cox DW, Prat L, Walshe JM, Heathcote J, Gaffney D (2005) Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. Human Mutation 26(3):280
-
(2005)
Human Mutation
, vol.26
, Issue.3
, pp. 280
-
-
Cox, D.W.1
Prat, L.2
Walshe, J.M.3
Heathcote, J.4
Gaffney, D.5
-
4
-
-
18144366993
-
Wilson disease: High prevalence in a mountainous area of Crete
-
Dedoussis GV, Genschel J, Sialvera TE et al (2005) Wilson disease: high prevalence in a mountainous area of Crete. Ann Hum Genet 69(Pt 3):268–274
-
(2005)
Ann Hum Genet
, vol.69
, pp. 268-274
-
-
Dedoussis, G.V.1
Genschel, J.2
Sialvera, T.E.3
-
5
-
-
57149083533
-
Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: Application to newborn screening
-
deWilde A, Sadilkova K, Sadilek M, Vasta V, Hahn SH (2008) Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening. Clin Chem 54(12):1961–1968
-
(2008)
Clin Chem
, vol.54
, Issue.12
, pp. 1961-1968
-
-
Dewilde, A.1
Sadilkova, K.2
Sadilek, M.3
Vasta, V.4
Hahn, S.H.5
-
6
-
-
0034936460
-
Wilson disease in two consecutive generations: An exceptional family
-
Firneisz G, Szonyi L, Ferenci P, Gorog D, Nemes B, Szalay F (2001) Wilson disease in two consecutive generations: an exceptional family. Am J Gastroenterol 96(7):2269–2271
-
(2001)
Am J Gastroenterol
, vol.96
, Issue.7
, pp. 2269-2271
-
-
Firneisz, G.1
Szonyi, L.2
Ferenci, P.3
Gorog, D.4
Nemes, B.5
Szalay, F.6
-
7
-
-
33747022446
-
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease
-
Kroll CA, Ferber MJ, Dawson BD et al (2006) Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol Genet Metab 89 (1–2):134–138
-
(2006)
Mol Genet Metab
, vol.89
, Issue.1-2
, pp. 134-138
-
-
Kroll, C.A.1
Ferber, M.J.2
Dawson, B.D.3
-
8
-
-
0038458485
-
Myelopathy due to copper deficiency
-
Kumar N, Gross JB Jr, Ahlskog JE (2003) Myelopathy due to copper deficiency. Neurology 61(2):273–274
-
(2003)
Neurology
, vol.61
, Issue.2
, pp. 273-274
-
-
Kumar, N.1
Gross, J.B.2
Ahlskog, J.E.3
-
9
-
-
0035208812
-
Estimate of the frequency of Wilson's disease in the US Caucasian population: A mutation analysis approach
-
Olivarez L, Caggana M, Pass KA, Ferguson P, Brewer GJ (2001) Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach. Annals Human Genetics 65(Pt 5):459–463
-
(2001)
Annals Human Genetics
, vol.65
, pp. 459-463
-
-
Olivarez, L.1
Caggana, M.2
Pass, K.A.3
Ferguson, P.4
Brewer, G.J.5
-
10
-
-
0027427695
-
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene
-
Petrukhin K, Fischer SG, Pirastu M et al (1993) Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 5(4):338–343
-
(1993)
Nat Genet
, vol.5
, Issue.4
, pp. 338-343
-
-
Petrukhin, K.1
Fischer, S.G.2
Pirastu, M.3
-
11
-
-
46249112793
-
Diagnosis and treatment of Wilson disease: An update
-
Roberts EA, Schilsky ML (2008) Diagnosis and treatment of Wilson disease: an update. Hepatology 47(6):2089–2111
-
(2008)
Hepatology
, vol.47
, Issue.6
, pp. 2089-2111
-
-
Roberts, E.A.1
Schilsky, M.L.2
-
12
-
-
0025729544
-
Mechanisms of copper incorporation during the biosynthesis of human ceruloplasmin
-
Sato M, Gitlin JD (1991) Mechanisms of copper incorporation during the biosynthesis of human ceruloplasmin. J Biol Chem 266(8):5128–5134
-
(1991)
J Biol Chem
, vol.266
, Issue.8
, pp. 5128-5134
-
-
Sato, M.1
Gitlin, J.D.2
-
13
-
-
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 (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5(4):344–350
-
(1993)
Nat Genet
, vol.5
, Issue.4
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
-
14
-
-
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(2):210–217
-
(1995)
Nature Genetics
, vol.9
, Issue.2
, pp. 210-217
-
-
Thomas, G.R.1
Forbes, J.R.2
Roberts, E.A.3
Walshe, J.M.4
Cox, D.W.5
-
15
-
-
0027431996
-
Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
-
Yamaguchi Y, Heiny ME, Gitlin JD (1993) Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 197(1):271–277
-
(1993)
Biochem Biophys Res Commun
, vol.197
, Issue.1
, pp. 271-277
-
-
Yamaguchi, Y.1
Heiny, M.E.2
Gitlin, J.D.3
|