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Items: 1 to 20 of 103

1.

Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.

Amson M, Lamoureux E, Hilzenrat N, Tischkowitz M.

Can J Gastroenterol. 2012 Jun;26(6):330-2.

2.

Two families with Wilson disease in which siblings showed different phenotypes.

Takeshita Y, Shimizu N, Yamaguchi Y, Nakazono H, Saitou M, Fujikawa Y, Aoki T.

J Hum Genet. 2002;47(10):543-7.

PMID:
12376745
3.

Clinical molecular diagnosis of Wilson disease.

Bennett J, Hahn SH.

Semin Liver Dis. 2011 Aug;31(3):233-8. doi: 10.1055/s-0031-1286054. Epub 2011 Sep 7. Review.

PMID:
21901653
4.

New novel mutation of the ATP7B gene in a family with Wilson disease.

Lee JY, Kim YH, Kim TW, Oh SY, Kim DS, Shin BS.

J Neurol Sci. 2012 Feb 15;313(1-2):129-31. doi: 10.1016/j.jns.2011.09.007. Epub 2011 Nov 8.

PMID:
22075048
5.

Wilson disease: a most unusual patient.

Walshe JM.

QJM. 2016 Feb;109(2):117-8. doi: 10.1093/qjmed/hcv142. Epub 2015 Aug 18. No abstract available.

PMID:
26286547
6.

[Wilson disease: an update].

Seo JK.

Korean J Hepatol. 2006 Sep;12(3):333-63. Review. Korean.

7.

Direct diagnosis of Wilson disease by molecular genetics.

Caprai S, Loudianos G, Massei F, Gori L, Lovicu M, Maggiore G.

J Pediatr. 2006 Jan;148(1):138-40.

PMID:
16423615
8.

Wilson disease with hepatic presentation in an eight-month-old boy.

Abuduxikuer K, Li LT, Qiu YL, Wang NL, Wang JS.

World J Gastroenterol. 2015 Aug 7;21(29):8981-4. doi: 10.3748/wjg.v21.i29.8981.

9.

[CME laboratory tests. Non-cirrhotic portal hypertension with nearly lethal consequences. Wilson disease]].

Jaeger A.

Praxis (Bern 1994). 2013 May 22;102(11):692-5. doi: 10.1024/1661-8157/a001297. German. No abstract available.

PMID:
23692912
10.

Wilson disease in septuagenarian siblings: Raising the bar for diagnosis.

Ala A, Borjigin J, Rochwarger A, Schilsky M.

Hepatology. 2005 Mar;41(3):668-70.

PMID:
15723329
11.

Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.

Leggio L, Malandrino N, Loudianos G, Abenavoli L, Lepori MB, Capristo E, De Virgiliis S, Gasbarrini G, Addolorato G.

Dig Dis Sci. 2007 Oct;52(10):2570-5. Epub 2007 Apr 5.

PMID:
17410460
12.

Early diagnosis of Wilson Disease in a six-year-old child.

Lo Curto AG, Marchi A, Grasso M, Arbustini E, Loudianos G, Brega A.

J Pediatr. 2006 Jan;148(1):141. No abstract available.

PMID:
16423616
13.

Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).

Seidel J, Caca K, Schwab SG, Berr F, Wildenauer DB, Mentzel HJ, Horn N, Kauf E.

Cell Mol Biol (Noisy-le-grand). 2001;47 Online Pub:OL149-57.

PMID:
11936861
14.

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
15.

[Alagille syndrome diagnosed in adolescence: a case report].

Fadlouallah M, Krami H, Tamzaourte M, Lahmiri M, Tahri S, El Koundi H, Mahassini N, Jahid A, Errabih I, Ouazzani H.

Arch Pediatr. 2010 Jul;17(7):1111-3. doi: 10.1016/j.arcped.2010.04.003. French. No abstract available.

PMID:
20627670
16.

Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings is different from Wilson disease and not involved in ATP7B mutation.

Lirong J, Jianjun J, Hua Z, Guoqiang F, Yuhao Z, Xiaoli P, Xiaomin Z, Yuwen Z, Yu M, Jie C, Jihong D, Yueshi M, Zhenyao M, Chunjiu Z.

Eur J Neurol. 2009 Oct;16(10):1130-7. doi: 10.1111/j.1468-1331.2009.02733.x. Epub 2009 Jun 30.

PMID:
19572946
17.

Relative exchangeable copper: a promising tool for family screening in Wilson disease.

Trocello JM, El Balkhi S, Woimant F, Girardot-Tinant N, Chappuis P, Lloyd C, Poupon J.

Mov Disord. 2014 Apr;29(4):558-62. doi: 10.1002/mds.25763. Epub 2013 Dec 27.

PMID:
24375554
18.

[The importance of confirmative diagnosis of presymptomatic patients with Wilson's disease].

Qiu ZQ.

Zhonghua Er Ke Za Zhi. 2013 Jun;51(6):406-7. Chinese. No abstract available.

PMID:
24120054
19.

Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.

El-Mougy FA, Sharaf SA, Elsharkawy MM, Mandour IA, El-Essawy RA, Eldin AM, Helmy HM, Soliman DH, Selim LH, Sharafeldin HM, Mogahed EA, El-Karaksy HM.

Arab J Gastroenterol. 2014 Sep-Dec;15(3-4):114-8. doi: 10.1016/j.ajg.2014.10.005. Epub 2014 Nov 21.

PMID:
25465132
20.

Wilson disease in offspring of affected patients: report of four French families.

Dufernez F, Lachaux A, Chappuis P, De Lumley L, Bost M, Woimant F, Misrahi M, Debray D.

Clin Res Hepatol Gastroenterol. 2013 Jun;37(3):240-5. doi: 10.1016/j.clinre.2013.01.001. Epub 2013 Apr 6.

PMID:
23567103

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