Literature DB >> 35864215

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.

Aurelia Poujois1,2, Mathilde Renaud3,4,5, Amory Jardel3, Céline Bonnet6,4, Solène Frismand-Kryloff3, Jean Marie Ravel6,4, Emmanuelle Schmitt7, Mickael Alexandre Obadia8, Sébastien Delassaux9, Myriam Bronner6.   

Abstract

Entities:  

Year:  2022        PMID: 35864215     DOI: 10.1007/s00415-022-11270-0

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   6.682


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  8 in total

1.  Late-onset Wilson's disease.

Authors:  Peter Ferenci; Anna Członkowska; Uta Merle; Szalay Ferenc; Grazyna Gromadzka; Cihan Yurdaydin; Wolfgang Vogel; Radan Bruha; Hartmut T Schmidt; Wolfgang Stremmel
Journal:  Gastroenterology       Date:  2007-02-25       Impact factor: 22.682

2.  Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease.

Authors:  Olivier Guillaud; Anne-Sophie Brunet; Isabelle Mallet; Jérôme Dumortier; Martine Pelosse; Sophie Heissat; Christine Rivet; Alain Lachaux; Muriel Bost
Journal:  Liver Int       Date:  2017-08-23       Impact factor: 5.828

Review 3.  New tools for Wilson's disease diagnosis: exchangeable copper fraction.

Authors:  France Woimant; Nouzha Djebrani-Oussedik; Aurélia Poujois
Journal:  Ann Transl Med       Date:  2019-04

4.  Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings.

Authors:  M E Ross; I M Jacobson; J L Dienstag; J B Martin
Journal:  Ann Neurol       Date:  1985-04       Impact factor: 10.422

Review 5.  Hepatic features of Wilson disease.

Authors:  Salih Boga; Aftab Ala; Michael L Schilsky
Journal:  Handb Clin Neurol       Date:  2017

6.  Kayser-Fleischer ring in Wilson's disease: a cohort study.

Authors:  M Fenu; M Liggi; E Demelia; O Sorbello; A Civolani; L Demelia
Journal:  Eur J Intern Med       Date:  2012-05-14       Impact factor: 4.487

7.  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

  8 in total

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