Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center

Abstract Background Newborn screening (NBS) programs have significantly improved the health and outcomes of patients with inherited metabolic disorders (IMDs). Methods based on liquid chromatography/mass spectrometry (LC–MS/MS) analysis are viewed worldwide as the gold standard procedure for the exp...

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Main Authors: Simona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, Marianna Alagia, Alessandro Rossi, Chiara Colantuono, Maria Teresa Cacciapuoti, Patrizia Annunziata, Sara Riccardo, Antonio Grimaldi, Tonya Fusco, Rosa De Santis, Fernando Barretta, Lucia Albano, Daniela Crisci, Fabiana Vallone, Antonietta Tarallo, Marcella Cesana, Nicola Brunetti-Pierri, Giulia Frisso, Margherita Ruoppolo, Davide Cacchiarelli, Giancarlo Parenti
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Newborn screening (NBS)
Inherited metabolic disorders (IMDs)
Whole exome sequencing (WES)
Next-generation sequencing (NGS)
Online Access:https://doi.org/10.1186/s13023-025-03546-1
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