Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism1. Issue 6 (19th June 2015)

• Record Type: Journal Article
• Authors: Scolamiero, Emanuela; Cozzolino, Carla; Albano, Lucia; Ansalone, Antonella; Caterino, Marianna; Corbo, Graziella; di Girolamo, Maria Grazia; Di Stefano, Cristina; Durante, Adriano; Franzese, Giovanni; Franzese, Ignazio; Gallo, Giovanna; Giliberti, Paolo; Ingenito, Laura; Ippolito, Giovanni; Malamisura, Basilio; Mazzeo, Pietro; Norma, Antonella; Ombrone, Daniela; Parenti, Giancarlo; Pellecchia, Silvana; Pecce, Rita; Pierucci, Ippolito; Romanelli, Roberta; Rossi, Anna; Siano, Massimo; Stoduto, Teodoro; Villani, Guglielmo R. D.; Andria, Generoso; Salvatore, Francesco; Frisso, Giulia; Ruoppolo, Margherita;
• Is Part Of: Molecular bioSystems. Volume 11:Issue 6(2015:Jun.)
• Page Start: 1525
• Page End: 1535
• Publication Date: 2015-06-19
• Subjects: Molecular biology -- Periodicals; Biochemistry -- Periodicals; 571.7405
• DOI: 10.1039/c4mb00729h
• Languages: English
• ISSNs: 1742-206X

Abstract

<abstract abstract-type="toc"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <graphic position="anchor" id="ga" xlink:href="ark:/27927/pgjp0c27x9" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" />This 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.</p> </abstract>