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10.1016/j.jconrel.2009.07.003 49 MuzykantovV

L.RizzoM

However, due to (i) rareness of the disease (unfamiliar to most neurologists), (ii) non-inclusion of GNE genetic testing for neurological indications, and (iii) non-specific symptoms at disease onset (foot-drop, balance impairment), the diagnosis of these patients is difficult and often delayed