Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
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Liguori R, et al. Among authors: borsini w.
PLoS One. 2017 Jul 3;12(7):e0180581. doi: 10.1371/journal.pone.0180581. eCollection 2017.
PLoS One. 2017.
PMID: 28672034
Free PMC article.