-
1
-
-
84963072124
-
Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver
-
Sak, W. 1912. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 34: 295-509.
-
(1912)
Brain
, vol.34
, pp. 295-509
-
-
Sak, W.1
-
3
-
-
46249112793
-
Diagnosis and treatment of Wilson disease: an update
-
Roberts, E.A. & M.L. Schilsky. 2008. Diagnosis and treatment of Wilson disease: an update. Hepatology. 47: 2089-2111.
-
(2008)
Hepatology.
, vol.47
, pp. 2089-2111
-
-
Roberts, E.A.1
Schilsky, M.L.2
-
4
-
-
16244386202
-
Neurologically presenting Wilson's disease: epidemiology, pathophysiology and treatment
-
Brewer, G.J. 2005. Neurologically presenting Wilson's disease: epidemiology, pathophysiology and treatment. CNS Drugs 19: 185-192.
-
(2005)
CNS Drugs
, vol.19
, pp. 185-192
-
-
Brewer, G.J.1
-
5
-
-
0016337558
-
Determination of apoceruloplasmin by radioimmunoassay in nutritional copper deficiency, Menke's kinky hair syndrome, Wilson's disease and umbilical cord blood
-
I Matzuda, T.P. & N.A. Holtman. 1974. Determination of apoceruloplasmin by radioimmunoassay in nutritional copper deficiency, Menke's kinky hair syndrome, Wilson's disease and umbilical cord blood. Pediatrics. 8: 821-824.
-
(1974)
Pediatrics.
, vol.8
, pp. 821-824
-
-
Matzuda, T.P.I.1
Holtman, N.A.2
-
6
-
-
0027937114
-
Measurement of blood holoceruloplasmin by EIA using a mouse monoclonal antibody directed to holoceruloplasmin. Implication for mass screening of Wilson disease
-
Endo, F., K. Taketa, K. Nakamura, 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. Inherit. Metab. Dis. 17: 616-620.
-
(1994)
J. Inherit. Metab. Dis.
, vol.17
, pp. 616-620
-
-
Endo, F.1
Taketa, K.2
Nakamura, K.3
-
7
-
-
0032769907
-
Mass screening for Wilson's disease: results and recommendations
-
Yamaguchi, Y., T. Aoki, S. Arashima, et al. 1999. Mass screening for Wilson's disease: results and recommendations. Pediatr. Int. 41: 405-408.
-
(1999)
Pediatr. Int.
, vol.41
, pp. 405-408
-
-
Yamaguchi, Y.1
Aoki, T.2
Arashima, S.3
-
8
-
-
0032990549
-
Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics
-
Ohura, T., D. Abukawa, H. Shiraishi, et al. 1999. Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics. J. Inherit. Metab. Dis. 22: 74-80.
-
(1999)
J. Inherit. Metab. Dis.
, vol.22
, pp. 74-80
-
-
Ohura, T.1
Abukawa, D.2
Shiraishi, H.3
-
9
-
-
0036085919
-
Mass screening for Wilson's disease by measuring urinary holoceruloplasmin
-
Owada, M., K. Suzuki, M. Fukushi, et al. 2002. Mass screening for Wilson's disease by measuring urinary holoceruloplasmin. J. Pediatr. 140: 614-616.
-
(2002)
J. Pediatr.
, vol.140
, pp. 614-616
-
-
Owada, M.1
Suzuki, K.2
Fukushi, M.3
-
10
-
-
44649111099
-
Early and presymptomatic detection of Wilson's disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecture with the use of a novel automated urinary ceruloplasmin assay
-
Nakayama, K., M. Kubota, Y. Katoh, et al. 2008. Early and presymptomatic detection of Wilson's disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecture with the use of a novel automated urinary ceruloplasmin assay. Mol. Genet. Metab. 94: 363-367.
-
(2008)
Mol. Genet. Metab.
, vol.94
, pp. 363-367
-
-
Nakayama, K.1
Kubota, M.2
Katoh, Y.3
-
11
-
-
0036616929
-
Pilot study of mass screening for Wilson's disease in Korea
-
Hahn, S.H., S.Y. Lee, Y.J. Jang, et al. 2002. Pilot study of mass screening for Wilson's disease in Korea. Mol. Genet. Metab. 76: 133-136.
-
(2002)
Mol. Genet. Metab.
, vol.76
, pp. 133-136
-
-
Hahn, S.H.1
Lee, S.Y.2
Jang, Y.J.3
-
12
-
-
33747022446
-
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease
-
Kroll, C.A., M.J. Ferber, B.D. Dawson, et al. 2006. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol. Genet. Metab. 89: 134-138.
-
(2006)
Mol. Genet. Metab.
, vol.89
, pp. 134-138
-
-
Kroll, C.A.1
Ferber, M.J.2
Dawson, B.D.3
-
13
-
-
57149083533
-
Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening
-
deWilde, A., K. Sadilkova, M. Sadilek, et al. 2008. Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening. Clin. Chem. 54: 1961-1968.
-
(2008)
Clin. Chem.
, vol.54
, pp. 1961-1968
-
-
deWilde, A.1
Sadilkova, K.2
Sadilek, M.3
-
14
-
-
58149214535
-
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs
-
Zappu, A., O. Magli, M.B. Lepori, et al. 2008. High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs. J. Pediatr. Gastroenterol. Nutr. 47: 334-338.
-
(2008)
J. Pediatr. Gastroenterol. Nutr.
, vol.47
, pp. 334-338
-
-
Zappu, A.1
Magli, O.2
Lepori, M.B.3
-
15
-
-
80052679496
-
Clinical molecular diagnosis of Wilson disease
-
Bennett, J. & S.H Hahn. 2011. Clinical molecular diagnosis of Wilson disease. Semin. Liver Dis. 31: 233-238.
-
(2011)
Semin. Liver Dis.
, vol.31
, pp. 233-238
-
-
Bennett, J.1
Hahn, S.H.2
-
16
-
-
84900031862
-
An exceptional family with three consecutive generations affected by Wilson disease
-
Bennett, J.T., K.B. Schwarz, P.D. Swanson & S.H Hahn. 2013. An exceptional family with three consecutive generations affected by Wilson disease. JIMD Rep. 10: 1-4.
-
(2013)
JIMD Rep.
, vol.10
, pp. 1-4
-
-
Bennett, J.T.1
Schwarz, K.B.2
Swanson, P.D.3
Hahn, S.H.4
-
17
-
-
77954387104
-
Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening
-
Zappu, A., M.B. Lepori, S. Incollu, et al. 2010. Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening. Mol. Cell Probes. 24: 233-235.
-
(2010)
Mol. Cell Probes.
, vol.24
, pp. 233-235
-
-
Zappu, A.1
Lepori, M.B.2
Incollu, S.3
-
18
-
-
84877282333
-
A genetic study of Wilson's disease in the United Kingdom
-
Coffey, A.J., M. Durkie, S. Hague, et al. 2013. A genetic study of Wilson's disease in the United Kingdom. Brain 136: 1476-1487.
-
(2013)
Brain
, vol.136
, pp. 1476-1487
-
-
Coffey, A.J.1
Durkie, M.2
Hague, S.3
-
19
-
-
84865592965
-
Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS
-
Kerfoot, S.A., S. Jung, K. Golob, et al. 2012. Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS. Proteomics Clin. Appl. 6: 394-402.
-
(2012)
Proteomics Clin. Appl.
, vol.6
, pp. 394-402
-
-
Kerfoot, S.A.1
Jung, S.2
Golob, K.3
-
20
-
-
76649109590
-
An automated and multiplexed method for high throughput peptide immunoaffinity enrichment and multiple reaction monitoring mass spectrometry-based quantification of protein biomarkers
-
Whiteaker, J.R., L. Zhao, L. Anderson & A.G Paulovich. 2010. An automated and multiplexed method for high throughput peptide immunoaffinity enrichment and multiple reaction monitoring mass spectrometry-based quantification of protein biomarkers. Mol. Cell. Proteomics. 9: 184-196.
-
(2010)
Mol. Cell. Proteomics.
, vol.9
, pp. 184-196
-
-
Whiteaker, J.R.1
Zhao, L.2
Anderson, L.3
Paulovich, A.G.4
-
21
-
-
79960214321
-
A targeted proteomics-based pipeline for verification of biomarkers in plasma
-
Whiteaker, J.R., C. Lin, J. Kennedy, et al. 2011. A targeted proteomics-based pipeline for verification of biomarkers in plasma. Nat. Biotechnol. 29: 625-634.
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 625-634
-
-
Whiteaker, J.R.1
Lin, C.2
Kennedy, J.3
-
22
-
-
0032167856
-
Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation
-
Payne, A.S., E.J. Kelly & J.D. Gitlin. 1998. Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. Proc. Natl. Acad Sci. U. S. A. 95: 10854-10859.
-
(1998)
Proc. Natl. Acad Sci. U. S. A.
, vol.95
, pp. 10854-10859
-
-
Payne, A.S.1
Kelly, E.J.2
Gitlin, J.D.3
-
23
-
-
73149122801
-
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin
-
van den Berghe, P.V., J.M. Stapelbroek, E. Krieger, et al. 2009. Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. Hepatology 50: 1783-1795.
-
(2009)
Hepatology
, vol.50
, pp. 1783-1795
-
-
van den Berghe, P.V.1
Stapelbroek, J.M.2
Krieger, E.3
-
24
-
-
34548861803
-
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B
-
de Bie, P., B. van de Sluis, E. Burstein, et al. 2007. Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. Gastroenterology 133: 1316-1326.
-
(2007)
Gastroenterology
, vol.133
, pp. 1316-1326
-
-
de Bie, P.1
van de Sluis, B.2
Burstein, E.3
-
25
-
-
77649312565
-
Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease
-
Merle, U., K.H. Weiss, C. Eisenbach, et al. 2010. Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. BMC Gastroenterol. 10: 8.
-
(2010)
BMC Gastroenterol.
, vol.10
, pp. 8
-
-
Merle, U.1
Weiss, K.H.2
Eisenbach, C.3
-
26
-
-
26244434931
-
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease
-
Vrabelova, S., O. Letocha, M. Borsky & L. Kozak. 2005. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Mol. Genet. Metab. 86: 277-285.
-
(2005)
Mol. Genet. Metab.
, vol.86
, pp. 277-285
-
-
Vrabelova, S.1
Letocha, O.2
Borsky, M.3
Kozak, L.4
-
27
-
-
6944256813
-
Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise
-
Mendell, J.T., N.A. Sharifi, J.L. Meyers, et al. 2004. Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat. Genet. 36: 1073-1078.
-
(2004)
Nat. Genet.
, vol.36
, pp. 1073-1078
-
-
Mendell, J.T.1
Sharifi, N.A.2
Meyers, J.L.3
|