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Items: 1 to 20 of 77

1.

Wilson's disease and other neurological copper disorders.

Bandmann O, Weiss KH, Kaler SG.

Lancet Neurol. 2015 Jan;14(1):103-13. doi: 10.1016/S1474-4422(14)70190-5. Review.

2.

Outcome and development of symptoms after orthotopic liver transplantation for Wilson disease.

Weiss KH, Schäfer M, Gotthardt DN, Angerer A, Mogler C, Schirmacher P, Schemmer P, Stremmel W, Sauer P.

Clin Transplant. 2013 Nov-Dec;27(6):914-22. doi: 10.1111/ctr.12259. Epub 2013 Oct 9.

PMID:
24118554
3.

Efficacy and safety of oral chelators in treatment of patients with Wilson disease.

Weiss KH, Thurik F, Gotthardt DN, Schäfer M, Teufel U, Wiegand F, Merle U, Ferenci-Foerster D, Maieron A, Stauber R, Zoller H, Schmidt HH, Reuner U, Hefter H, Trocello JM, Houwen RH, Ferenci P, Stremmel W; EUROWILSON Consortium.

Clin Gastroenterol Hepatol. 2013 Aug;11(8):1028-35.e1-2. doi: 10.1016/j.cgh.2013.03.012. Epub 2013 Mar 28.

PMID:
23542331
4.

A genetic study of Wilson's disease in the United Kingdom.

Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O.

Brain. 2013 May;136(Pt 5):1476-87. doi: 10.1093/brain/awt035. Epub 2013 Mar 21.

5.

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.

Gialluisi A, Incollu S, Pippucci T, Lepori MB, Zappu A, Loudianos G, Romeo G.

Eur J Hum Genet. 2013 Nov;21(11):1308-11. doi: 10.1038/ejhg.2013.43. Epub 2013 Mar 13. Erratum in: Eur J Hum Genet. 2014 Feb;22(2):295.

6.

Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.

Hofer H, Willheim-Polli C, Knoflach P, Gabriel C, Vogel W, Trauner M, Müller T, Ferenci P.

J Hum Genet. 2012 Sep;57(9):564-7. doi: 10.1038/jhg.2012.65. Epub 2012 Jul 5.

PMID:
22763723
7.

EASL Clinical Practice Guidelines: Wilson's disease.

European Association for Study of Liver.

J Hepatol. 2012 Mar;56(3):671-85. doi: 10.1016/j.jhep.2011.11.007.

8.

DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.

Incollu S, Lepori MB, Zappu A, Dessì V, Noli MC, Mameli E, Iorio R, Ranucci G, Cao A, Loudianos G.

Mol Cell Probes. 2011 Oct-Dec;25(5-6):195-8. doi: 10.1016/j.mcp.2011.07.003. Epub 2011 Sep 8.

PMID:
21925265
9.

Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment.

Rosencrantz R, Schilsky M.

Semin Liver Dis. 2011 Aug;31(3):245-59. doi: 10.1055/s-0031-1286056. Epub 2011 Sep 7. Review.

PMID:
21901655
10.

Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment.

Tatsumi Y, Shinohara T, Imoto M, Wakusawa S, Yano M, Hayashi K, Hattori A, Hayashi H, Shimizu A, Ichiki T, Nakashima S, Katano Y, Goto H.

Hepatol Res. 2011 Sep;41(9):887-96. doi: 10.1111/j.1872-034X.2011.00835.x. Epub 2011 Jun 28.

PMID:
21707886
11.

Clinical presentation and mutations in Danish patients with Wilson disease.

Møller LB, Horn N, Jeppesen TD, Vissing J, Wibrand F, Jennum P, Ott P.

Eur J Hum Genet. 2011 Sep;19(9):935-41. doi: 10.1038/ejhg.2011.80. Epub 2011 May 25.

12.

Copper deficiency myeloneuropathy in a patient with Wilson disease.

da Silva-Júnior FP, Machado AA, Lucato LT, Cançado EL, Barbosa ER.

Neurology. 2011 May 10;76(19):1673-4. doi: 10.1212/WNL.0b013e318219fac8. No abstract available.

PMID:
21555737
13.

Systems biology approach to Wilson's disease.

Burkhead JL, Gray LW, Lutsenko S.

Biometals. 2011 Jun;24(3):455-66. doi: 10.1007/s10534-011-9430-9. Epub 2011 Mar 5. Review.

14.

Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's disease.

Gromadzka G, Rudnicka M, Chabik G, Przybyłkowski A, Członkowska A.

J Hepatol. 2011 Oct;55(4):913-9. doi: 10.1016/j.jhep.2011.01.030. Epub 2011 Feb 18.

PMID:
21334398
15.

Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease.

Weiss KH, Gotthardt DN, Klemm D, Merle U, Ferenci-Foerster D, Schaefer M, Ferenci P, Stremmel W.

Gastroenterology. 2011 Apr;140(4):1189-1198.e1. doi: 10.1053/j.gastro.2010.12.034. Epub 2010 Dec 24.

PMID:
21185835
16.

Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.

Bruha R, Marecek Z, Pospisilova L, Nevsimalova S, Vitek L, Martasek P, Nevoral J, Petrtyl J, Urbanek P, Jiraskova A, Ferenci P.

Liver Int. 2011 Jan;31(1):83-91. doi: 10.1111/j.1478-3231.2010.02354.x. Epub 2010 Oct 20.

PMID:
20958917
17.

Zinc-induced copper deficiency in Wilson disease.

Horvath J, Beris P, Giostra E, Martin PY, Burkhard PR.

J Neurol Neurosurg Psychiatry. 2010 Dec;81(12):1410-1. doi: 10.1136/jnnp.2009.188896. Epub 2010 Oct 4. No abstract available.

PMID:
20921535
18.

Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.

Weiss KH, Runz H, Noe B, Gotthardt DN, Merle U, Ferenci P, Stremmel W, Füllekrug J.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S233-40. doi: 10.1007/s10545-010-9123-5. Epub 2010 Jun 2.

PMID:
20517649
19.

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.

van den Berghe PV, Stapelbroek JM, Krieger E, de Bie P, van de Graaf SF, de Groot RE, van Beurden E, Spijker E, Houwen RH, Berger R, Klomp LW.

Hepatology. 2009 Dec;50(6):1783-95. doi: 10.1002/hep.23209.

PMID:
19937698
20.

Long-term exclusive zinc monotherapy in symptomatic Wilson disease: experience in 17 patients.

Linn FH, Houwen RH, van Hattum J, van der Kleij S, van Erpecum KJ.

Hepatology. 2009 Nov;50(5):1442-52. doi: 10.1002/hep.23182.

PMID:
19731238

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