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Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
Fecarotta S, Vaccaro L, Verde A, Alagia M, Rossi A, Colantuono C, Cacciapuoti MT, Annunziata P, Riccardo S, Grimaldi A, Fusco T, De Santis R, Barretta F, Albano L, Crisci D, Vallone F, Tarallo A, Cesana M, Brunetti-Pierri N, Frisso G, Ruoppolo M, Cacchiarelli D, Parenti G. Fecarotta S, et al. Orphanet J Rare Dis. 2025 Jan 24;20(1):38. doi: 10.1186/s13023-025-03546-1. Orphanet J Rare Dis. 2025. PMID: 39856690