article_metadata: Irene Simonetta Renata Riolo Federica Todaro Vincenzo Donadio Alex Incensi Salvatore Miceli Paolo Colomba Giovanni Duro Antonino Tuttolomondo
article_metadata: 10.3389/fgene.2023.1122893
article_metadata: Front Genet
article_metadata: 2023 Sep 14:14:1122893.
article_metadata: anderson–fabry disease case report de novo pathogenic variant one family member renal disease
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37779915/
article_metadata: Case Reports
article_metadata: PMC10537954
article_metadata: 37779915
article_metadata: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson-Fabry disease
article_metadata: 2023