Literature DB >> 21273697

Middle-aged heterozygous carriers of Wilson's disease do not present with significant phenotypic deviations related to copper metabolism.

G Gromadzka1, G Chabik, T Mendel, A Wierzchowska, M Rudnicka, A Czlonkowska.   

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Year:  2010        PMID： 21273697     DOI： 10.1007/s12041-010-0065-3

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  25 in total

1.  Studies on copper metabolism. XXIX. A critical analysis of serum copper and ceruloplasmin concentrations in normal subjects, patients with Wilson's disease and relatives of patients with Wilson's disease.

Authors:  G E CARTWRIGHT; H MARKOWITZ; G S SHIELDS; M M WINTROBE
Journal:  Am J Med       Date:  1960-04       Impact factor: 4.965

2.  Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.

Authors:  Slavka Vrabelova; Ondrej Letocha; Marek Borsky; Libor Kozak
Journal:  Mol Genet Metab       Date:  2005-06-20       Impact factor: 4.797

Review 3.  Wilson's disease.

Authors:  Aftab Ala; Ann P Walker; Keyoumars Ashkan; James S Dooley; Michael L Schilsky
Journal:  Lancet       Date:  2007-02-03       Impact factor: 79.321

4.  A genetic study of Wilson's disease: evidence for heterogeneity.

Authors:  D W Cox; F C Fraser; A Sass-Kortsak
Journal:  Am J Hum Genet       Date:  1972-11       Impact factor: 11.025

5.  p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.

Authors:  Graznya Gromadzka; Harmut H J Schmidt; Janine Genschel; Bettina Bochow; M Rodo; Beatek Tarnacka; Thomas Litwin; Grzegorz Chabik; Anna Członkowska
Journal:  Mov Disord       Date:  2006-02       Impact factor: 10.338

6.  Is Parkinson's disease the heterozygote form of Wilson's disease: PD = 1/2 WD?

Authors:  S Johnson
Journal:  Med Hypotheses       Date:  2001-02       Impact factor: 1.538

Review 7.  Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

Authors:  P de Bie; P Muller; C Wijmenga; L W J Klomp
Journal:  J Med Genet       Date:  2007-08-23       Impact factor: 6.318

8.  Heterozygous carriers for Wilson's disease--magnetic spectroscopy changes in the brain.

Authors:  Beata Tarnacka; Wojciech Szeszkowski; Janine Buettner; Marek Gołebiowski; Grazyna Gromadzka; Anna Członkowska
Journal:  Metab Brain Dis       Date:  2009-08-26       Impact factor: 3.584

9.  Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines.

Authors:  Dominik Huster; Michael Hoppert; Svetlana Lutsenko; Jan Zinke; Claudia Lehmann; Joachim Mössner; Frieder Berr; Karel Caca
Journal:  Gastroenterology       Date:  2003-02       Impact factor: 22.682

10.  Ceruloplasmin and superoxide dismutase (SOD1) in heterozygotes for Wilson disease: A case control study.

Authors:  Gudlaug Tórsdóttir; Grétar Gudmundsson; Jakob Kristinsson; Jón Snaedal; Torkell Jóhannesson
Journal:  Neuropsychiatr Dis Treat       Date:  2009-04-08       Impact factor: 2.570
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  8 in total

1.  Difficulties in diagnosis and treatment of Wilson disease-a case series of five patients.

Authors:  Anna Członkowska; Karolina Dzieżyc-Jaworska; Bożena Kłysz; Rędzia-Ogrodnik Barbara; Tomasz Litwin
Journal:  Ann Transl Med       Date:  2019-04

Review 2.  Population screening and diagnostic strategies in screening family members of Wilson's disease patients.

Authors:  Huamei Li; Ran Tao; Lifang Liu; Shiqiang Shang
Journal:  Ann Transl Med       Date:  2019-04

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.  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

5.  Biomarkers for diagnosis of Wilson's disease.

Authors:  Aidan Ryan; Sarah J Nevitt; Orla Tuohy; Paul Cook
Journal:  Cochrane Database Syst Rev       Date:  2019-11-19

Review 6.  Critical Review of Exposure and Effects: Implications for Setting Regulatory Health Criteria for Ingested Copper.

Authors:  Alicia A Taylor; Joyce S Tsuji; Michael R Garry; Margaret E McArdle; William L Goodfellow; William J Adams; Charles A Menzie
Journal:  Environ Manage       Date:  2019-12-12       Impact factor: 3.266

7.  Transcranial sonography changes in heterozygotic carriers of the ATP7B gene.

Authors:  Marta Skowronska; Tomasz Litwin; Iwona Kurkowska-Jastrzębska; Anna Członkowska
Journal:  Neurol Sci       Date:  2020-04-09       Impact factor: 3.307

8.  Treatment with D-penicillamine or zinc sulphate affects copper metabolism and improves but not normalizes antioxidant capacity parameters in Wilson disease.

Authors:  Grażyna Gromadzka; Gromadzka Grażyna; Agata Karpińska; Karpińska Agata; Adam Przybyłkowski; Przybyłkowski Adam; Tomasz Litwin; Litwin Tomasz; Agata Wierzchowska-Ciok; Wierzchowska-Ciok Agata; Karolina Dzieżyc; Dzieżyc Karolina; Grzegorz Chabik; Chabik Grzegorz; Anna Członkowska; Członkowska Anna
Journal:  Biometals       Date:  2013-12-25       Impact factor: 2.949
  8 in total

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