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International Journal of Molecular Sciences|September 28, 2023
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel <i>PPP2R1A</i> Variant and Its Unreported PhenotypeMònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, et al.Journal of Inherited Metabolic Disease|October 14, 2025
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and MonitoringFlorencia Epifani, Lluc Cabus, Gregorio A Nolasco, et al.Scientific Reports|December 21, 2023
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional studyFlorencia Epifani, Susana María Pujol Serra, Marta Llorens, et al.Journal of Inherited Metabolic Disease|December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendationsVeronika Holubova, Rita Barone, Stephanie Grunewald, et al.Pageof 1