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Article

Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y.

Muscle & nerve - 1 May 2021

von Cossel Katharina, Muschol Nicole, Friedrich Reinhard E, Glatzel Markus, Ammer Luise, Lohmöller Benjamin, Bendszus Martin, Mautner Victor-Felix, Godel Tim

Abstract excerpt

INTRODUCTION: The pathophysiological significance of the Fabry-related, non-classical variant p.D313Y still remains to be solved. This study assesses the involvement of the peripheral nervous system with respect to small fiber neuropathy and neuropathic pain in female patients carrying p.D313Y. METHODS: This study examined nine females carrying the Fabry-related p.D313Y variant by obtaining skin punch biopsies...

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PMID: 33543778
DOI: 10.1002/mus.27196

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