Literature DB >> 29564470

[Misdiagnosis of Wilson's disease despite positive genetics].

W Hermann1, C Hennig2, J Hoffmann3.   

Abstract

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Year:  2018        PMID： 29564470     DOI： 10.1007/s00115-018-0506-4

Source DB:  PubMed          Journal:  Nervenarzt        ISSN： 0028-2804            Impact factor:   1.214


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  10 in total

Review 1.  Perspectives on Wilson's disease.

Authors:  I Sternlieb
Journal:  Hepatology       Date:  1990-11       Impact factor: 17.425

2.  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.

Authors:  G Gromadzka; H H-J Schmidt; J Genschel; B Bochow; M Rodo; B Tarnacka; T Litwin; G Chabik; A Członkowska
Journal:  Clin Genet       Date:  2005-12       Impact factor: 4.438

Review 3.  Wilson disease.

Authors:  E A Roberts; D W Cox
Journal:  Baillieres Clin Gastroenterol       Date:  1998-06

4.  [Diagnostic and therapeutic aspects of Wilson's disease in the preclinical stage].

Authors:  J Löbbner; H Bachmann; B Eichner; D Biesold; K Günther
Journal:  Psychiatr Neurol Med Psychol (Leipz)       Date:  1973-05

5.  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

6.  A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.

Authors:  Maya Schushan; Ashima Bhattacharjee; Nir Ben-Tal; Svetlana Lutsenko
Journal:  Metallomics       Date:  2012-06-13       Impact factor: 4.526

Review 7.  Wilson's disease: a new gene and an animal model for an old disease.

Authors:  J A Cuthbert
Journal:  J Investig Med       Date:  1995-08       Impact factor: 2.895

8.  New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

Authors:  Lisa Prat Davies; Georgina Macintyre; Diane W Cox
Journal:  Genet Test       Date:  2008-03

9.  Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.

Authors:  Lelita T Braiterman; Amrutha Murthy; Samuel Jayakanthan; Lydia Nyasae; Eric Tzeng; Grazyna Gromadzka; Thomas B Woolf; Svetlana Lutsenko; Ann L Hubbard
Journal:  Proc Natl Acad Sci U S A       Date:  2014-03-24       Impact factor: 11.205

Review 10.  Wilson's disease and other neurological copper disorders.

Authors:  Oliver Bandmann; Karl Heinz Weiss; Stephen G Kaler
Journal:  Lancet Neurol       Date:  2015-01       Impact factor: 44.182
  10 in total
  1 in total

Review 1.  Classification and differential diagnosis of Wilson's disease.

Authors:  Wieland Hermann
Journal:  Ann Transl Med       Date:  2019-04
  1 in total

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