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. 2014 Nov 26;9:178. doi: 10.1186/s13023-014-0178-5

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© Schelleckes et al.; licensee BioMed Central Ltd. 2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Presentation of the retrospective study design. Between 07/2011 and 12/2013 86 new patients presented at the Fabry center of the University Hospital Muenster with Fabry-typical neurological manifestations such as small fiber neuropathy with neuropathic pain, or stroke/TIA of unknown etiology. Out of 86 patients 49 had classical Fabry disease-causing mutations, 12 patients were symptomatic -10T allele carriers and 25 patients had no GLA mutation. Two asymptomatic patients were identified by family screening. We analyzed GLA expression in all detected -10T allele carriers and retrospectively analyzed clinical data.