article_metadata: Monia Anania Federico Pieruzzi Irene Giacalone Barbara Trezzi Emanuela Maria Marsana Letizia Roggero Daniele Francofonte Michele Stefanoni Martina Vinci Carmela Zizzo Marcomaria Zora Tiziana Di Chiara Giulia Duro Giovanni Duro Paolo Colomba
article_metadata: 10.3390/ijms26020473
article_metadata: Int J Mol Sci
article_metadata: 2025 Jan 8;26(2):473.
article_metadata: fabry disease gla gene lyso-gb3 novel mutations α-galactosidase a
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39859188/
article_metadata: Fabry Disease / diagnosis Fabry Disease / genetics Mutation alpha-Galactosidase / genetics alpha-Galactosidase / metabolism
article_metadata: Fabry Disease / diagnosis Fabry Disease / genetics Mutation alpha-Galactosidase / genetics alpha-Galactosidase / metabolism Case Reports Adult Female Humans Male Middle Aged Trihexosylceramides / metabolism alpha-Galactosidase GLA protein, human Trihexosylceramides globotriaosylceramide
article_metadata: PMC11764669
article_metadata: 39859188
article_metadata: Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease
article_metadata: 2025