Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene.
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Cianci V, et al. Among authors: liguori r.
Metab Brain Dis. 2022 Dec;37(8):3023-3026. doi: 10.1007/s11011-022-01079-1. Epub 2022 Sep 30.
Metab Brain Dis. 2022.
PMID: 36178639