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Phenotypes
Original article
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

Authors

  • Bouwien E Smid Division Endocrinology and Metabolism, Department of Internal Medicine, Amsterdam lysosome center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Linda van der Tol Division Endocrinology and Metabolism, Department of Internal Medicine, Amsterdam lysosome center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Marieke Biegstraaten Division Endocrinology and Metabolism, Department of Internal Medicine, Amsterdam lysosome center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Gabor E Linthorst Division Endocrinology and Metabolism, Department of Internal Medicine, Amsterdam lysosome center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Carla E M Hollak Division Endocrinology and Metabolism, Department of Internal Medicine, Amsterdam lysosome center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Ben 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
  1. Correspondence to Dr Ben J H M Poorthuis, Laboratory of Genetic Metabolic Diseases, Academic Medical Center, Room F0-220, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands; b.j.poorthuis{at}amc.uva.nl
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Citation

Smid BE, van der Tol L, Biegstraaten M, et al
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease
Journal of Medical Genetics 2015;52:262-268.

Publication history

  • Received November 2, 2014
  • Revised December 23, 2014
  • Accepted December 27, 2014
  • First published January 16, 2015.
Online issue publication 
April 27, 2016

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