Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism
2015; Royal Society of Chemistry; Volume: 11; Issue: 6 Linguagem: Inglês
10.1039/c4mb00729h
ISSN1742-206X
AutoresEmanuela Scolamiero, Carla Cozzolino, Lucia Albano, Antonella Ansalone, Marianna Caterino, Graziella Corbo, Maria Grazia Di Girolamo, Cristina Di Stefano, Adriano Durante, Giovanni Franzese, Ignazio Franzese, Giovanna Gallo, Paola Giliberti, Laura Ingenito, Giovanni Ippolito, Basilio Malamisura, Pietro Mazzeo, Antonella Norma, Daniela Ombrone, Giancarlo Parenti, Silvana Pellecchia, Rita Pecce, Ippolito Pierucci, Roberta Maia de Castro Romanelli, Anna Rossi, Massimo Siano, Teodoro Stoduto, G. Villani, Generoso Andria, Francesco Salvatore, Giulia Frisso, Margherita Ruoppolo,
Tópico(s)Mitochondrial Function and Pathology
ResumoThis paper highlights the importance of metabolic profiling by LC-MS/MS and GC-MS of biological fluids for diagnosis of inborn errors of metabolism and confirms a high incidence of these disorders.
Referência(s)