Literature DB >> 11467673

Wilson disease in two consecutive generations: an exceptional family.

G Firneisz, L Szönyi, P Ferenci, D Görög, B Nemes, F Szalay.   

Abstract

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Year:  2001        PMID： 11467673     DOI： 10.1111/j.1572-0241.2001.03983.x

Source DB:  PubMed          Journal:  Am J Gastroenterol        ISSN： 0002-9270            Impact factor:   10.864


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  7 in total

1.  A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia.

Authors:  Lorenzo Leggio; Giovanni Addolorato; Georgios Loudianos; Ludovico Abenavoli; Maria Barbara Lepori; Fabio Maria Vecchio; Gian Ludovico Rapaccini; Stefano De Virgiliis; Giovanni Gasbarrini
Journal:  Dig Dis Sci       Date:  2006-01       Impact factor: 3.199

2.  Wilson's disease in two consecutive generations in a Bulgarian Roma family.

Authors:  V Mihaylova; T Todorov; H Jelev; S Cherninkova; M Raycheva; A Savov; I Kremensky; I Tournev
Journal:  J Neurol       Date:  2007-08-14       Impact factor: 4.849

3.  An exceptional family with three consecutive generations affected by Wilson disease.

Authors:  James T Bennett; Kathleen B Schwarz; Phillip D Swanson; Si Houn Hahn
Journal:  JIMD Rep       Date:  2013-02-07

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

Authors:  Lorenzo Leggio; Noemi Malandrino; Georgios Loudianos; Ludovico Abenavoli; Maria Barbara Lepori; Esmeralda Capristo; Stefano De Virgiliis; Giovanni Gasbarrini; Giovanni Addolorato
Journal:  Dig Dis Sci       Date:  2007-04-05       Impact factor: 3.199

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

Authors:  Alison J Coffey; Miranda Durkie; Stephen Hague; Kirsten McLay; Jennifer Emmerson; Christine Lo; Stefanie Klaffke; Christopher J Joyce; Anil Dhawan; Nedim Hadzic; Giorgina Mieli-Vergani; Richard Kirk; K Elizabeth Allen; David Nicholl; Siew Wong; William Griffiths; Sarah Smithson; Nicola Giffin; Ali Taha; Sally Connolly; Godfrey T Gillett; Stuart Tanner; Jim Bonham; Basil Sharrack; Aarno Palotie; Magnus Rattray; Ann Dalton; Oliver Bandmann
Journal:  Brain       Date:  2013-03-21       Impact factor: 13.501

Review 6.  Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

Authors:  Carmen Espinós; Peter Ferenci
Journal:  JHEP Rep       Date:  2020-04-18

7.  Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.

Authors:  Relu Cocoş; Alina Şendroiu; Sorina Schipor; Laurenţiu Camil Bohîlţea; Ionuţ Şendroiu; Florina Raicu
Journal:  PLoS One       Date:  2014-06-04       Impact factor: 3.240
  7 in total

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