Literature DB >> 20695873

Unexpected combination of inherited chorea-acanthocytosis with MDR3 (ABCB4) defect mimicking Wilson's disease.

M Anheim, P Chamouard, G Rudolf, B Ellero, L Vercueil, B Goichot, C Marescaux, C Tranchant.   

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Year:  2010        PMID： 20695873     DOI： 10.1111/j.1399-0004.2010.01386.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

Review 1.  Update on the Diagnosis and Management of Wilson Disease.

Authors:  Eve A Roberts
Journal:  Curr Gastroenterol Rep       Date:  2018-11-05

Review 2.  [Liver biopsy in children and adolescents : Preliminary morphological examinations in diffuse liver disease].

Authors:  C Lackner; A S Knisely
Journal:  Pathologe       Date:  2017-07       Impact factor: 1.011

3.  Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Authors:  Miao Sun; Amy Knight Johnson; Viswateja Nelakuditi; Lucia Guidugli; David Fischer; Kelly Arndt; Lan Ma; Erin Sandford; Vikram Shakkottai; Kym Boycott; Jodi Warman-Chardon; Zejuan Li; Daniela Del Gaudio; Margit Burmeister; Christopher M Gomez; Darrel J Waggoner; Soma Das
Journal:  Genet Med       Date:  2018-06-18       Impact factor: 8.822

4.  Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.

Authors:  Stephanie Barbara Schatz; Christoph Jüngst; Verena Keitel-Anselmo; Ralf Kubitz; Christina Becker; Patrick Gerner; Eva-Doreen Pfister; Imeke Goldschmidt; Norman Junge; Daniel Wenning; Stephan Gehring; Stefan Arens; Dirk Bretschneider; Dirk Grothues; Guido Engelmann; Frank Lammert; Ulrich Baumann
Journal:  Hepatol Commun       Date:  2018-03-22
  4 in total

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