-
1
-
-
85059110153
-
Emergent psychosis in Wilson's disease
-
Aggarwal A., Bhatt M. Emergent psychosis in Wilson's disease. Movement Disorders 2008, 23:S181.
-
(2008)
Movement Disorders
, vol.23
-
-
Aggarwal, A.1
Bhatt, M.2
-
2
-
-
84887220245
-
Recovery from severe neurological Wilson's disease with copper chelation
-
Aggarwal A., Bhatt M. Recovery from severe neurological Wilson's disease with copper chelation. Movement Disorders 2012, 27:S71.
-
(2012)
Movement Disorders
, vol.27
-
-
Aggarwal, A.1
Bhatt, M.2
-
3
-
-
85059110116
-
Clinical spectrum and pathological correlates of osseomuscular disability in Wilson's disease
-
Aggarwal A., Jankharia G., Bhatt M. Clinical spectrum and pathological correlates of osseomuscular disability in Wilson's disease. Movement Disorders 2008, 23:S173-S174.
-
(2008)
Movement Disorders
, vol.23
-
-
Aggarwal, A.1
Jankharia, G.2
Bhatt, M.3
-
4
-
-
67651151383
-
A novel global assessment scale for Wilson's disease (GAS for WD)
-
Aggarwal A., Nagral A., Jankharia G., Aggarwal N., Bhatt M. A novel global assessment scale for Wilson's disease (GAS for WD). Movement Disorders 2009, 24:509-518.
-
(2009)
Movement Disorders
, vol.24
, pp. 509-518
-
-
Aggarwal, A.1
Nagral, A.2
Jankharia, G.3
Aggarwal, N.4
Bhatt, M.5
-
5
-
-
84883137028
-
Wilson disease mutation pattern with genotype-phenotype correlations from western India: Confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations
-
Aggarwal A., Chandhok G., Todorov T., Parekh S., Tilve S., Zibert A., et al. Wilson disease mutation pattern with genotype-phenotype correlations from western India: Confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations. Annals of Human Genetics 2013, 77:8. 10.1111/ahg.12024.
-
(2013)
Annals of Human Genetics
, vol.77
, pp. 8
-
-
Aggarwal, A.1
Chandhok, G.2
Todorov, T.3
Parekh, S.4
Tilve, S.5
Zibert, A.6
-
6
-
-
2542643685
-
Genetic and biochemical aspects of Wilson's disease
-
Bearn A.G. Genetic and biochemical aspects of Wilson's disease. The American Journal of Medicine 1953, 15:442-449.
-
(1953)
The American Journal of Medicine
, vol.15
, pp. 442-449
-
-
Bearn, A.G.1
-
8
-
-
0344375104
-
Familial cirrhosis of the liver: Four cases of acute fatal cirrhosis in the same family, the patients being respectively nine, ten, fourteen and fourteen years of age: Suggested relationship to Wilson's progressive degeneration of the lenticular nucleus
-
Bramwell B. Familial cirrhosis of the liver: Four cases of acute fatal cirrhosis in the same family, the patients being respectively nine, ten, fourteen and fourteen years of age: Suggested relationship to Wilson's progressive degeneration of the lenticular nucleus. Edinburgh Medical Journal 1916, 17:90-99.
-
(1916)
Edinburgh Medical Journal
, vol.17
, pp. 90-99
-
-
Bramwell, B.1
-
9
-
-
0032191253
-
Treatment of Wilson's disease with zinc: XV long-term follow-up studies
-
Brewer G.J., Dick R.D., Johnson V.D., Brunberg J.A., Kluin K.J., Fink J.K. Treatment of Wilson's disease with zinc: XV long-term follow-up studies. The Journal of Laboratory and Clinical Medicine 1998, 132:264-278.
-
(1998)
The Journal of Laboratory and Clinical Medicine
, vol.132
, pp. 264-278
-
-
Brewer, G.J.1
Dick, R.D.2
Johnson, V.D.3
Brunberg, J.A.4
Kluin, K.J.5
Fink, J.K.6
-
10
-
-
0035093059
-
Treatment of Wilson's disease with zinc XVI: Treatment during the pediatric years
-
Brewer G.J., Dick R.D., Johnson V.D., Fink J.K., Kluin K.J., Daniels S. Treatment of Wilson's disease with zinc XVI: Treatment during the pediatric years. The Journal of Laboratory and Clinical Medicine 2001, 137:191-198.
-
(2001)
The Journal of Laboratory and Clinical Medicine
, vol.137
, pp. 191-198
-
-
Brewer, G.J.1
Dick, R.D.2
Johnson, V.D.3
Fink, J.K.4
Kluin, K.J.5
Daniels, S.6
-
11
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
Bull P.C., Thomas G.R., Rommens J.M., Forbes J.R., Cox D.W. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genetics 1993, 5(4):327-337. 10.1038/ng1293-327.
-
(1993)
Nature Genetics
, 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
-
12
-
-
0028242939
-
Wilson disease and Menkes disease: New handles on heavy-metal transport
-
Bull P.C., Cox D.W. Wilson disease and Menkes disease: New handles on heavy-metal transport. Trends in Genetics 1994, 10:246-252.
-
(1994)
Trends in Genetics
, vol.10
, pp. 246-252
-
-
Bull, P.C.1
Cox, D.W.2
-
13
-
-
0035171548
-
High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis
-
Caca K., Ferenci P., Kuhn H.J., Polli C., Willgerodt H., Kunath B., et al. High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis. Journal of Hepatology 2001, 35(5):575-581.
-
(2001)
Journal of Hepatology
, vol.35
, Issue.5
, pp. 575-581
-
-
Caca, K.1
Ferenci, P.2
Kuhn, H.J.3
Polli, C.4
Willgerodt, H.5
Kunath, B.6
-
14
-
-
0033797675
-
Acute hepatitis after starting zinc therapy in a patient with presymptomatic Wilson's disease
-
Castilla-Higuero L., Romero-Gomez M., Suarez E., Castro M. Acute hepatitis after starting zinc therapy in a patient with presymptomatic Wilson's disease. Hepatology 2000, 32:877.
-
(2000)
Hepatology
, vol.32
, pp. 877
-
-
Castilla-Higuero, L.1
Romero-Gomez, M.2
Suarez, E.3
Castro, M.4
-
16
-
-
0030012456
-
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease
-
Chuang L.M., Wu H.P., Jang M.H., Wang T.R., Sue W.C., Lin B.J., et al. High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. Journal of Medical Genetics 1996, 33(6):521-523.
-
(1996)
Journal of Medical Genetics
, vol.33
, Issue.6
, pp. 521-523
-
-
Chuang, L.M.1
Wu, H.P.2
Jang, M.H.3
Wang, T.R.4
Sue, W.C.5
Lin, B.J.6
-
17
-
-
84877282333
-
A genetic study of Wilson's disease in the United Kingdom
-
Coffey A.J., Durkie M., Hague S., McLay K., Emmerson J., Lo C., et al. A genetic study of Wilson's disease in the United Kingdom. Brain 2013, 136(Pt 5):1476-1487. 10.1093/brain/awt035.
-
(2013)
Brain
, vol.136
, Issue.PART 5
, pp. 1476-1487
-
-
Coffey, A.J.1
Durkie, M.2
Hague, S.3
McLay, K.4
Emmerson, J.5
Lo, C.6
-
18
-
-
0038354720
-
New haplotypes in the Bedlington terrier indicate complexity in copper toxicosis
-
Coronado V.A., Damaraju D., Kohijoki R., Cox D.W. New haplotypes in the Bedlington terrier indicate complexity in copper toxicosis. Mammalian Genome 2003, 14(7):483-491. 10.1007/s00335-002-2255-3.
-
(2003)
Mammalian Genome
, vol.14
, Issue.7
, pp. 483-491
-
-
Coronado, V.A.1
Damaraju, D.2
Kohijoki, R.3
Cox, D.W.4
-
20
-
-
0001435653
-
The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration
-
Cumings J.N. The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration. Brain 1948, 71(Pt. 4):410-415.
-
(1948)
Brain
, vol.71
, Issue.PART. 4
, pp. 410-415
-
-
Cumings, J.N.1
-
21
-
-
77957187189
-
The effects of BAL in hepatolenticular degeneration
-
Cumings J.N. The effects of BAL in hepatolenticular degeneration. Brain 1951, 74:10-22.
-
(1951)
Brain
, vol.74
, pp. 10-22
-
-
Cumings, J.N.1
-
22
-
-
0032852326
-
A study of Wilson disease mutations in Britain
-
Curtis D., Durkie M., Balac P., Sheard D., Goodeve A., Peake I., et al. A study of Wilson disease mutations in Britain. Human Mutation 1999, 14(4):304-311. 10.1002/(SICI)1098-1004(199910)14:4<304::AID-HUMU5>3.0.CO;2-W.
-
(1999)
Human Mutation
, vol.14
, Issue.4
, pp. 304-311
-
-
Curtis, D.1
Durkie, M.2
Balac, P.3
Sheard, D.4
Goodeve, A.5
Peake, I.6
-
23
-
-
20844462076
-
Wilson's disease-cause of mortality in 164 patients during 1992-2003 observation period
-
Członkowska A., Tarnacka B., Litwin T., Gajda J., Rodo M. Wilson's disease-cause of mortality in 164 patients during 1992-2003 observation period. Journal of Neurology 2005, 252:698-703.
-
(2005)
Journal of Neurology
, vol.252
, pp. 698-703
-
-
Członkowska, A.1
Tarnacka, B.2
Litwin, T.3
Gajda, J.4
Rodo, M.5
-
24
-
-
52449103827
-
Late onset Wilson's disease: therapeutic implications
-
Czlonkowska A., Rodo M., Gromadzka G. Late onset Wilson's disease: therapeutic implications. Movement Disorders 2008, 23(6):896-898. 10.1002/mds.21985.
-
(2008)
Movement Disorders
, vol.23
, Issue.6
, pp. 896-898
-
-
Czlonkowska, A.1
Rodo, M.2
Gromadzka, G.3
-
25
-
-
67651166903
-
Monozygotic female twins discordant for phenotype of Wilson's disease
-
Czlonkowska A., Gromadzka G., Chabik G. Monozygotic female twins discordant for phenotype of Wilson's disease. Movement Disorders 2009, 24(7):1066-1069. 10.1002/mds.22474.
-
(2009)
Movement Disorders
, vol.24
, Issue.7
, pp. 1066-1069
-
-
Czlonkowska, A.1
Gromadzka, G.2
Chabik, G.3
-
26
-
-
0014237314
-
Wilson's disease in India. I. Geographic, genetic, and clinical aspects in 16 families
-
Dastur D.K., Manghani D.K., Wadia N.H. Wilson's disease in India. I. Geographic, genetic, and clinical aspects in 16 families. Neurology 1968, 18:21-31.
-
(1968)
Neurology
, vol.18
, pp. 21-31
-
-
Dastur, D.K.1
Manghani, D.K.2
Wadia, N.H.3
-
27
-
-
2342620218
-
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients
-
Deguti M.M., Genschel J., Cancado E.L., Barbosa E.R., Bochow B., Mucenic M., et al. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Human Mutation 2004, 23(4):398. 10.1002/humu.9227.
-
(2004)
Human Mutation
, vol.23
, Issue.4
, pp. 398
-
-
Deguti, M.M.1
Genschel, J.2
Cancado, E.L.3
Barbosa, E.R.4
Bochow, B.5
Mucenic, M.6
-
28
-
-
78651036626
-
The effects of BAL (2,3-dimercaptopropanol) on hepatolenticular degeneration (Wilson's disease)
-
Denny Brown D., Porter H. The effects of BAL (2,3-dimercaptopropanol) on hepatolenticular degeneration (Wilson's disease). The New England Journal of Medicine 1951, 245:917-925.
-
(1951)
The New England Journal of Medicine
, vol.245
, pp. 917-925
-
-
Denny Brown, D.1
Porter, H.2
-
29
-
-
33747029284
-
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: Impact on genetic testing
-
Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: Impact on genetic testing. Human Genetics 2006, 120:151-159.
-
(2006)
Human Genetics
, vol.120
, pp. 151-159
-
-
Ferenci, P.1
-
30
-
-
0142029450
-
Diagnosis and phenotypic classification of Wilson disease
-
Ferenci P., Caca K., Loudianos G., Mieli-Vergani G., Tanner S., Sternlieb I., et al. Diagnosis and phenotypic classification of Wilson disease. Liver International 2003, 23:139-142.
-
(2003)
Liver International
, vol.23
, pp. 139-142
-
-
Ferenci, P.1
Caca, K.2
Loudianos, G.3
Mieli-Vergani, G.4
Tanner, S.5
Sternlieb, I.6
-
31
-
-
0037082977
-
Common mutations of ATP7B in Wilson disease patients from Hungary
-
Firneisz G., Lakatos P.L., Szalay F., Polli C., Glant T.T., Ferenci P. Common mutations of ATP7B in Wilson disease patients from Hungary. American Journal of Medical Genetics 2002, 108(1):23-28.
-
(2002)
American Journal of Medical Genetics
, vol.108
, Issue.1
, pp. 23-28
-
-
Firneisz, G.1
Lakatos, P.L.2
Szalay, F.3
Polli, C.4
Glant, T.T.5
Ferenci, P.6
-
32
-
-
0034322405
-
Wilson's disease: Acute and presymptomatic laboratory diagnosis and monitoring
-
Gaffney D., Fell G.S., O'Reilly D.S. Wilson's disease: Acute and presymptomatic laboratory diagnosis and monitoring. Journal of Clinical Pathology 2000, 53:807-812.
-
(2000)
Journal of Clinical Pathology
, vol.53
, pp. 807-812
-
-
Gaffney, D.1
Fell, G.S.2
O'Reilly, D.S.3
-
35
-
-
0017580632
-
Arthropathy of Wilson's disease. Study of clinical and radiological features in 32 patients
-
Golding D.N., Walshe J.M. Arthropathy of Wilson's disease. Study of clinical and radiological features in 32 patients. Annals of the Rheumatic Diseases 1977, 36:99-111.
-
(1977)
Annals of the Rheumatic Diseases
, vol.36
, pp. 99-111
-
-
Golding, D.N.1
Walshe, J.M.2
-
36
-
-
28644438204
-
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
-
Gromadzka G., Schmidt H.H., Genschel J., Bochow B., Rodo M., Tarnacka B., et al. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. Clinical Genetics 2005, 68(6):524-532. 10.1111/j.1399-0004.2005.00528.x.
-
(2005)
Clinical Genetics
, vol.68
, Issue.6
, pp. 524-532
-
-
Gromadzka, G.1
Schmidt, H.H.2
Genschel, J.3
Bochow, B.4
Rodo, M.5
Tarnacka, B.6
-
37
-
-
0345170773
-
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease
-
Gu Y.H., Kodama H., Du S.L., Gu Q.J., Sun H.J., Ushijima H. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. Clinical Genetics 2003, 64(6):479-484.
-
(2003)
Clinical Genetics
, vol.64
, Issue.6
, pp. 479-484
-
-
Gu, Y.H.1
Kodama, H.2
Du, S.L.3
Gu, Q.J.4
Sun, H.J.5
Ushijima, H.6
-
38
-
-
33646827879
-
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients
-
Gupta A., Aikath D., Neogi R., Datta S., Basu K., Maity B., et al. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. Human Mutation 2005, 118(1):49-57. 10.1007/s00439-005-0007-y.
-
(2005)
Human Mutation
, vol.118
, Issue.1
, pp. 49-57
-
-
Gupta, A.1
Aikath, D.2
Neogi, R.3
Datta, S.4
Basu, K.5
Maity, B.6
-
40
-
-
0028903259
-
Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism
-
Harris Z.L., Takahashi Y., Miyajima H., Serizawa M., MacGillivray R.T.A., Gitlin J.D. Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism. Proceedings of the National Academy of Sciences 1995, 92:2539-2543.
-
(1995)
Proceedings of the National Academy of Sciences
, vol.92
, pp. 2539-2543
-
-
Harris, Z.L.1
Takahashi, Y.2
Miyajima, H.3
Serizawa, M.4
MacGillivray, R.T.A.5
Gitlin, J.D.6
-
41
-
-
84859308177
-
Ubereine anamoliedes kupferstoffwechsels
-
Haurowitz F. Ubereine anamoliedes kupferstoffwechsels. Hoppe-Seyler's Zeitschrift 1930, 90:72-74.
-
(1930)
Hoppe-Seyler's Zeitschrift
, vol.90
, pp. 72-74
-
-
Haurowitz, F.1
-
42
-
-
0031980440
-
Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency
-
Kaler S.G. Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency. American Journal of Clinical Nutrition 1998, 67:1029S-1034S.
-
(1998)
American Journal of Clinical Nutrition
, vol.67
-
-
Kaler, S.G.1
-
43
-
-
37049036616
-
Sequence variation database for the Wilson disease copper transporter, ATP7B
-
Kenney S.M., Cox D.W. Sequence variation database for the Wilson disease copper transporter, ATP7B. Human Mutation 2007, 28:1171-1177.
-
(2007)
Human Mutation
, vol.28
, pp. 1171-1177
-
-
Kenney, S.M.1
Cox, D.W.2
-
44
-
-
0032769447
-
Molecular genetics and pathophysiology of Menkes disease
-
Kodama H., Murata Y. Molecular genetics and pathophysiology of Menkes disease. Pediatrics International 1999, 41:430-435.
-
(1999)
Pediatrics International
, vol.41
, pp. 430-435
-
-
Kodama, H.1
Murata, Y.2
-
45
-
-
54449091326
-
Pediatric and Adult Acute Liver Failure Study Groups. Screening for Wilson disease in acute liver failure: A comparison of currently available diagnostic tests
-
Korman J.D., Volenberg I., Balko J., Webster J., Schiodt F.V., Squires R.H., et al. Pediatric and Adult Acute Liver Failure Study Groups. Screening for Wilson disease in acute liver failure: A comparison of currently available diagnostic tests. Hepatology 2008, 48:1167-1174.
-
(2008)
Hepatology
, vol.48
, pp. 1167-1174
-
-
Korman, J.D.1
Volenberg, I.2
Balko, J.3
Webster, J.4
Schiodt, F.V.5
Squires, R.H.6
-
46
-
-
17644379343
-
Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype
-
Kumar S., Thapa B.R., Kaur G., Prasad R. Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype. Clinical Genetics 2005, 67(5):443-445. 10.1111/j.1399-0004.2005.00440.x.
-
(2005)
Clinical Genetics
, vol.67
, Issue.5
, pp. 443-445
-
-
Kumar, S.1
Thapa, B.R.2
Kaur, G.3
Prasad, R.4
-
47
-
-
0027433823
-
Fatal deterioration of Wilson's disease after institution of oral zinc therapy
-
Lang C.J., Rabas-Kolominsky P., Engelhardt A., Kobras G., Konig H.J. Fatal deterioration of Wilson's disease after institution of oral zinc therapy. Archives of Neurology 1993, 50:1007-1008.
-
(1993)
Archives of Neurology
, vol.50
, pp. 1007-1008
-
-
Lang, C.J.1
Rabas-Kolominsky, P.2
Engelhardt, A.3
Kobras, G.4
Konig, H.J.5
-
48
-
-
33746348633
-
Resolution of decompensated cirrhosis from Wilson's disease with zinc monotherapy: A potential therapeutic option?
-
Lee V.D., Northup P.G., Berg C.L. Resolution of decompensated cirrhosis from Wilson's disease with zinc monotherapy: A potential therapeutic option?. Clinical Gastroenterology and Hepatology 2006, 4:1069-1071.
-
(2006)
Clinical Gastroenterology and Hepatology
, vol.4
, pp. 1069-1071
-
-
Lee, V.D.1
Northup, P.G.2
Berg, C.L.3
-
49
-
-
79958030028
-
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort
-
Lee B.H., Kim J.H., Lee S.Y., Jin H.Y., Kim K.J., Lee J.J., et al. Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort. Liver International 2011, 31(6):831-839. 10.1111/j.1478-3231.2011.02503.x.
-
(2011)
Liver International
, vol.31
, Issue.6
, pp. 831-839
-
-
Lee, B.H.1
Kim, J.H.2
Lee, S.Y.3
Jin, H.Y.4
Kim, K.J.5
Lee, J.J.6
-
50
-
-
44449169800
-
Neurological presentation of Wilson's disease in a patient after liver transplantation
-
Litwin T., Gromadzka G., Czlonkowska A. Neurological presentation of Wilson's disease in a patient after liver transplantation. Movement Disorders 2008, 23(5):743-746. 10.1002/mds.21913.
-
(2008)
Movement Disorders
, vol.23
, Issue.5
, pp. 743-746
-
-
Litwin, T.1
Gromadzka, G.2
Czlonkowska, A.3
-
51
-
-
34447510930
-
Function and regulation of human copper-transporting ATPases
-
Lutsenko S., Barnes N.L., Bartee M.Y., Dmitriev O.Y. Function and regulation of human copper-transporting ATPases. Physiological Reviews 2007, 87:1011-1046.
-
(2007)
Physiological Reviews
, vol.87
, pp. 1011-1046
-
-
Lutsenko, S.1
Barnes, N.L.2
Bartee, M.Y.3
Dmitriev, O.Y.4
-
53
-
-
15944405042
-
Treatment of Wilson's disease with zinc from the time of diagnosis in pediatric patients: A single-hospital, 10-year follow-up study
-
Marcellini M., Di Ciommo V., Callea F., Devito R., Comparcola D., Sartorelli M.R., et al. Treatment of Wilson's disease with zinc from the time of diagnosis in pediatric patients: A single-hospital, 10-year follow-up study. The Journal of Laboratory and Clinical Medicine 2005, 145:139-143.
-
(2005)
The Journal of Laboratory and Clinical Medicine
, vol.145
, pp. 139-143
-
-
Marcellini, M.1
Di Ciommo, V.2
Callea, F.3
Devito, R.4
Comparcola, D.5
Sartorelli, M.R.6
-
54
-
-
0026535178
-
Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease
-
Martins da Costa C., Baldwin D., Portmann B., Lolin Y., Mowat A.P., Mieli-Vergani G. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease. Hepatology 1992, 15:609-615.
-
(1992)
Hepatology
, vol.15
, pp. 609-615
-
-
Martins da Costa, C.1
Baldwin, D.2
Portmann, B.3
Lolin, Y.4
Mowat, A.P.5
Mieli-Vergani, G.6
-
55
-
-
40349084104
-
Failure of prophylactic zinc in Wilson disease
-
Mishra D., Kalra V., Seth R. Failure of prophylactic zinc in Wilson disease. Indian Pediatrics 2008, 45:151-153.
-
(2008)
Indian Pediatrics
, vol.45
, pp. 151-153
-
-
Mishra, D.1
Kalra, V.2
Seth, R.3
-
56
-
-
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
-
57
-
-
78649603088
-
Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease
-
Nicastro E., Ranucci G., Vajro P., Vegnente A., Iorio R. Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology 2010, 52:1948-1956.
-
(2010)
Hepatology
, vol.52
, pp. 1948-1956
-
-
Nicastro, E.1
Ranucci, G.2
Vajro, P.3
Vegnente, A.4
Iorio, R.5
-
58
-
-
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., et al. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Human Mutation 2000, 15(5):454-462. 10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.0.CO;2-J.
-
(2000)
Human Mutation
, vol.15
, Issue.5
, pp. 454-462
-
-
Okada, T.1
Shiono, Y.2
Hayashi, H.3
Satoh, H.4
Sawada, T.5
Suzuki, A.6
-
60
-
-
2442690500
-
Wilson's disease: Diagnostic errors and clinical implications
-
Prashanth L.K., Taly A.B., Sinha S., Arunodaya G.R., Swamy H.S. Wilson's disease: Diagnostic errors and clinical implications. Journal of Neurology, Neurosurgery, and Psychiatry 2004, 75:907-909.
-
(2004)
Journal of Neurology, Neurosurgery, and Psychiatry
, vol.75
, pp. 907-909
-
-
Prashanth, L.K.1
Taly, A.B.2
Sinha, S.3
Arunodaya, G.R.4
Swamy, H.S.5
-
61
-
-
2442471606
-
Intracellular copper transport in mammals
-
Prohaska J.R., Gybina A.A. Intracellular copper transport in mammals. Journal of Nutrition 2004, 134:1003-1006.
-
(2004)
Journal of Nutrition
, vol.134
, pp. 1003-1006
-
-
Prohaska, J.R.1
Gybina, A.A.2
-
62
-
-
46249112793
-
Diagnosis and treatment of Wilson disease: An update
-
Roberts E.A., Schilsky M.L. Diagnosis and treatment of Wilson disease: An update. Hepatology 2008, 47:2089-2111.
-
(2008)
Hepatology
, vol.47
, pp. 2089-2111
-
-
Roberts, E.A.1
Schilsky, M.L.2
-
63
-
-
80052691380
-
Wilson disease: Pathogenesis and clinical considerations in diagnosis and treatment
-
Rosencrantz R., Schilsky M. Wilson disease: Pathogenesis and clinical considerations in diagnosis and treatment. Seminars in Liver Disease 2011, 31:245-259.
-
(2011)
Seminars in Liver Disease
, vol.31
, pp. 245-259
-
-
Rosencrantz, R.1
Schilsky, M.2
-
64
-
-
0003100598
-
Uber das Wesen und die Bedeutung der Leberveranderungen und der pigmentierunen bie den damit verbunden Fallen von Pseudosclerose, zugleich ein Beitrag zur Lehre von der seudosclerose (Westphal-Strumpell)
-
Rumpel A. Uber das Wesen und die Bedeutung der Leberveranderungen und der pigmentierunen bie den damit verbunden Fallen von Pseudosclerose, zugleich ein Beitrag zur Lehre von der seudosclerose (Westphal-Strumpell). Deutsche Zeitschrift Nervenheilkunde 1913, 49:54-73.
-
(1913)
Deutsche Zeitschrift Nervenheilkunde
, vol.49
, pp. 54-73
-
-
Rumpel, A.1
-
65
-
-
33947513398
-
ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients
-
Santhosh S., Shaji R.V., Eapen C.E., Jayanthi V., Malathi S., Chandy M., et al. ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients. Indian Journal of Gastroenterology 2006, 25(6):277-282.
-
(2006)
Indian Journal of Gastroenterology
, vol.25
, Issue.6
, pp. 277-282
-
-
Santhosh, S.1
Shaji, R.V.2
Eapen, C.E.3
Jayanthi, V.4
Malathi, S.5
Chandy, M.6
-
67
-
-
0028945498
-
Treatment of the neurologic manifestations of Wilson's disease
-
Scheinberg I.H., Sternlieb I. Treatment of the neurologic manifestations of Wilson's disease. Archives of Neurology 1995, 52:339-340.
-
(1995)
Archives of Neurology
, vol.52
, pp. 339-340
-
-
Scheinberg, I.H.1
Sternlieb, I.2
-
69
-
-
59349086620
-
Role of genotyping in Wilson's disease
-
Schmidt H.H. Role of genotyping in Wilson's disease. Journal of Hepatology 2009, 50:449-452.
-
(2009)
Journal of Hepatology
, vol.50
, pp. 449-452
-
-
Schmidt, H.H.1
-
70
-
-
0001817770
-
Pseudosclerose (Westphal-Strumpell) mit cornealring (Kayser-Fleischer) und doppelseitger scheinkatarakt, die nur bei seitlicherbeleuchtung sichtbar ist und die, der nach verletzung durch kupfersplitterentstehenden katarakt ahnlich ist
-
Siemerling E., Oloff H. Pseudosclerose (Westphal-Strumpell) mit cornealring (Kayser-Fleischer) und doppelseitger scheinkatarakt, die nur bei seitlicherbeleuchtung sichtbar ist und die, der nach verletzung durch kupfersplitterentstehenden katarakt ahnlich ist. Klinische Wochenschrift 1922, 1:1087-1089.
-
(1922)
Klinische Wochenschrift
, vol.1
, pp. 1087-1089
-
-
Siemerling, E.1
Oloff, H.2
-
71
-
-
36549056479
-
Withdrawal of penicillamine from zinc sulphate-penicillamine maintenance therapy in Wilson's disease: Promising, safe and cheap
-
Sinha S., Taly A.B. Withdrawal of penicillamine from zinc sulphate-penicillamine maintenance therapy in Wilson's disease: Promising, safe and cheap. Journal of Neurological Sciences 2008, 15:129-132.
-
(2008)
Journal of Neurological Sciences
, vol.15
, pp. 129-132
-
-
Sinha, S.1
Taly, A.B.2
-
72
-
-
7244220246
-
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis
-
Stapelbroek J.M., Bollen C.W., van Amstel J.K., van Erpecum K.J., van Hattum J., van den Berg L.H., et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. Journal of hepatology 2004, 41(5):758-763. 10.1016/j.jhep.2004.07.017.
-
(2004)
Journal of hepatology
, vol.41
, Issue.5
, pp. 758-763
-
-
Stapelbroek, J.M.1
Bollen, C.W.2
van Amstel, J.K.3
van Erpecum, K.J.4
van Hattum, J.5
van den Berg, L.H.6
-
73
-
-
84884719697
-
Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes?
-
In print
-
Stamelou M., Lai S.C., Aggarwal A., Schneider S.A., Houlden H., Yeh T.H., et al. Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes?. Movement Disorders 2013, 28:1325-1329. In print.
-
(2013)
Movement Disorders
, vol.28
, pp. 1325-1329
-
-
Stamelou, M.1
Lai, S.C.2
Aggarwal, A.3
Schneider, S.A.4
Houlden, H.5
Yeh, T.H.6
-
75
-
-
0015259278
-
Chronic hepatitis as a first manifestation of Wilson's disease
-
Sternlieb I., Scheinberg I.H. Chronic hepatitis as a first manifestation of Wilson's disease. Annals of Internal Medicine 1972, 76:59-64.
-
(1972)
Annals of Internal Medicine
, vol.76
, pp. 59-64
-
-
Sternlieb, I.1
Scheinberg, I.H.2
-
77
-
-
34247567771
-
Wilson disease: Description of 282 patients evaluated over 3 decades
-
Taly A.B., Meenakshi-Sundaram S., Sinha S., Swamy H.S., Arunodaya G.R. Wilson disease: Description of 282 patients evaluated over 3 decades. Medicine (Baltimore) 2007, 86:112-121.
-
(2007)
Medicine (Baltimore)
, vol.86
, pp. 112-121
-
-
Taly, A.B.1
Meenakshi-Sundaram, S.2
Sinha, S.3
Swamy, H.S.4
Arunodaya, G.R.5
-
78
-
-
72849119554
-
Wilson's disease: An Indian perspective
-
Taly A.B., Prashanth L.K., Sinha S. Wilson's disease: An Indian perspective. Neurology India 2009, 57(5):528-540. 10.4103/0028-3886.57789.
-
(2009)
Neurology India
, vol.57
, Issue.5
, pp. 528-540
-
-
Taly, A.B.1
Prashanth, L.K.2
Sinha, S.3
-
79
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi R.E., Petrukhin K., Chernov I., Pellequer J.L., Wasco W., Ross B., et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nature Genetics 1993, 5(4):344-350. 10.1038/ng1293-344.
-
(1993)
Nature Genetics
, vol.5
, Issue.4
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
Pellequer, J.L.4
Wasco, W.5
Ross, B.6
-
80
-
-
0028869945
-
The Wilson disease gene: spectrum of mutations and their consequences
-
Thomas G.R., Forbes J.R., Roberts E.A., Walshe J.M., Cox D.W. The Wilson disease gene: spectrum of mutations and their consequences. Nature Genetics 1995, 9(2):210-217. 10.1038/ng0295-210.
-
(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
-
81
-
-
27544502303
-
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population
-
Todorov T., Savov A., Jelev H., Panteleeva E., Konstantinova D., Krustev Z., et al. Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population. Clinical Genetics 2005, 68(5):474-476. 10.1111/j.1399-0004.2005.00516.x.
-
(2005)
Clinical Genetics
, vol.68
, Issue.5
, pp. 474-476
-
-
Todorov, T.1
Savov, A.2
Jelev, H.3
Panteleeva, E.4
Konstantinova, D.5
Krustev, Z.6
-
83
-
-
0005150751
-
Kupfer und silber aufgespeichert in auge, leber, milz und nieren als symptom der pseudosklerose
-
Vogt A. Kupfer und silber aufgespeichert in auge, leber, milz und nieren als symptom der pseudosklerose. Klinische Monatsblatter Augenheilkunde 1929, 83:417-419.
-
(1929)
Klinische Monatsblatter Augenheilkunde
, vol.83
, pp. 417-419
-
-
Vogt, A.1
-
84
-
-
49749198017
-
Wilson's disease. New oral therapy
-
Walshe J.M. Wilson's disease. New oral therapy. Lancet 1956, 267:25-26.
-
(1956)
Lancet
, vol.267
, pp. 25-26
-
-
Walshe, J.M.1
-
85
-
-
0012266918
-
Wilson's disease. The presenting symptoms
-
Walshe J.M. Wilson's disease. The presenting symptoms. Archives of Disease in Childhood 1962, 37:253-256.
-
(1962)
Archives of Disease in Childhood
, vol.37
, pp. 253-256
-
-
Walshe, J.M.1
-
86
-
-
0015882078
-
Copper chelation in patients with Wilson's disease. A comparison of penicillamine and triethylene tetramine dihydrochloride
-
Walshe J.M. Copper chelation in patients with Wilson's disease. A comparison of penicillamine and triethylene tetramine dihydrochloride. Quarterly Journal of Medicine 1973, 42:441-452.
-
(1973)
Quarterly Journal of Medicine
, vol.42
, pp. 441-452
-
-
Walshe, J.M.1
-
87
-
-
0020086199
-
Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride
-
Walshe J.M. Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride. Lancet 1982, 1:643-647.
-
(1982)
Lancet
, vol.1
, pp. 643-647
-
-
Walshe, J.M.1
-
88
-
-
0024976526
-
Wilson's disease patients can be decoppered
-
Walshe J.M. Wilson's disease patients can be decoppered. Lancet 1989, 22(2):228.
-
(1989)
Lancet
, vol.22
, Issue.2
, pp. 228
-
-
Walshe, J.M.1
-
89
-
-
33644959308
-
History of Wilson's disease: 1912 to 2000
-
Walshe J.M. History of Wilson's disease: 1912 to 2000. Movement Disorders 2006, 21(2):142-147. 10.1002/mds.20694.
-
(2006)
Movement Disorders
, vol.21
, Issue.2
, pp. 142-147
-
-
Walshe, J.M.1
-
90
-
-
38049158328
-
Cause of death in Wilson disease
-
Walshe J.M. Cause of death in Wilson disease. Movement Disorders 2007, 22:2216-2220.
-
(2007)
Movement Disorders
, vol.22
, pp. 2216-2220
-
-
Walshe, J.M.1
-
91
-
-
67749135502
-
The conquest of Wilson's disease
-
Walshe J.M. The conquest of Wilson's disease. Brain 2009, 132:2289-2295.
-
(2009)
Brain
, vol.132
, pp. 2289-2295
-
-
Walshe, J.M.1
-
92
-
-
0022568610
-
Dangers of non-compliance in Wilson's disease
-
Walshe J.M., Dixon A.K. Dangers of non-compliance in Wilson's disease. Lancet 1986, 1:845-847.
-
(1986)
Lancet
, vol.1
, pp. 845-847
-
-
Walshe, J.M.1
Dixon, A.K.2
-
93
-
-
0026787965
-
Wilson's disease: the problem of delayed diagnosis
-
Walshe J.M., Yealland M. Wilson's disease: the problem of delayed diagnosis. Journal of Neurology, Neurosurgery, and Psychiatry 1992, 55(8):692-696.
-
(1992)
Journal of Neurology, Neurosurgery, and Psychiatry
, vol.55
, Issue.8
, pp. 692-696
-
-
Walshe, J.M.1
Yealland, M.2
-
94
-
-
0028799498
-
Zinc-induced deterioration in Wilson's disease aborted by treatment with penicillamine, dimercaprol, and a novel zero copper diet
-
Walshe J.M., Munro N.A. Zinc-induced deterioration in Wilson's disease aborted by treatment with penicillamine, dimercaprol, and a novel zero copper diet. Archives of Neurology 1995, 52:10-11.
-
(1995)
Archives of Neurology
, vol.52
, pp. 10-11
-
-
Walshe, J.M.1
Munro, N.A.2
-
95
-
-
0003428971
-
Wilson's disease
-
Futura, New York, W.J. Weiner, A.E. Lang (Eds.)
-
Weiner W.J., Lang A.E. Wilson's disease. Movement disorders-A comprehensive survey 1989, 257-291. Futura, New York. W.J. Weiner, A.E. Lang (Eds.).
-
(1989)
Movement disorders-A comprehensive survey
, pp. 257-291
-
-
Weiner, W.J.1
Lang, A.E.2
-
96
-
-
84963072124
-
Progressive lenticular degeneration: A familial nervous disease with cirrhosis of the liver
-
Wilson S.A.K. Progressive lenticular degeneration: A familial nervous disease with cirrhosis of the liver. Brain 1912, 34:295-507.
-
(1912)
Brain
, vol.34
, pp. 295-507
-
-
Wilson, S.A.K.1
-
97
-
-
0033993020
-
Identification and analysis of mutations of the Wilson disease gene in Chinese population
-
Wu Z., Wang N., Murong S., Lin M. Identification and analysis of mutations of the Wilson disease gene in Chinese population. Chinese Medical Journal 2000, 113(1):40-43.
-
(2000)
Chinese Medical Journal
, vol.113
, Issue.1
, pp. 40-43
-
-
Wu, Z.1
Wang, N.2
Murong, S.3
Lin, M.4
-
98
-
-
0026631625
-
Wilson's disease: Current status
-
Yarze J.C., Martin P., Muñoz S.J., Friedman L.S. Wilson's disease: Current status. The American Journal of Medicine 1992, 92:643-654.
-
(1992)
The American Journal of Medicine
, vol.92
, pp. 643-654
-
-
Yarze, J.C.1
Martin, P.2
Muñoz, S.J.3
Friedman, L.S.4
|