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Papers of the Week

Papers: 6 Feb 2021 - 12 Feb 2021

Human Studies

2021 Feb 05

Muscle Nerve

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


V Cossel K, Muschol N, Friedrich RE, Glatzel M, Ammer L, Lohmöller B, Bendszus M, Mautner V-F, Godel T
Muscle Nerve. 2021 Feb 05.
PMID: 33543778.


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.