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A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

Authors

  • L van der Tol Department of Endocrinology and Metabolism, Amsterdam Lysosome Center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • B E Smid Department of Endocrinology and Metabolism, Amsterdam Lysosome Center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • B J H M Poorthuis Laboratory of Genetic Metabolic Diseases, Amsterdam Lysosome Center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • M Biegstraaten Department of Endocrinology and Metabolism, Amsterdam Lysosome Center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • R H Lekanne Deprez Clinical Genetics, Amsterdam Lysosome Center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • G E Linthorst Department of Endocrinology and Metabolism, Amsterdam Lysosome Center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • C E M Hollak Department of Endocrinology and Metabolism, Amsterdam Lysosome Center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  1. Correspondence to
    Prof Dr C E M Hollak, Department of Endocrinology and Metabolism, F5-170, PO box 22660, Amsterdam 1105 AZ, The Netherlands; c.e.hollak{at}amc.uva.nl
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Citation

van der Tol L, Smid BE, Poorthuis BJHM, et al
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
Journal of Medical Genetics 2014;51:1-9.

Publication history

  • Received June 7, 2013
  • Revised July 10, 2013
  • Accepted July 11, 2013
  • First published August 6, 2013.
Online issue publication 
December 18, 2013

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