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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

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Deficient α-galactosidase A activity in plasma but no Fabry disease – a pitfall in diagnosis

Bjoern Hoffmann1 / Hans Georg Koch2 / Susanne Schweitzer-Krantz3 / Udo Wendel4 / Ertan Mayatepek5






Corresponding author: Bjoern Hoffmann, Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University, 40225 Düsseldorf, Germany Phone: +49-211-8118087, Fax: +49-211-8119786,

Citation Information: Clinical Chemical Laboratory Medicine. Volume 43, Issue 11, Pages 1276–1277, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2005.219, November 2005

Keywords: Fabry disease; α-galactosidase A; mutation analyses; pseudodeficiency

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