Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism-Reference-Cited by-同舟云学术

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism

Published:2015 Issue:6 Volume:11 Page:1525-1535
ISSN:1742-206X
Container-title:Molecular BioSystems
language:en
Short-container-title:Mol. BioSyst.

Author:

Scolamiero Emanuela¹²³,Cozzolino Carla¹²³,Albano Lucia⁴⁵²³,Ansalone Antonella⁶⁷³,Caterino Marianna¹²³,Corbo Graziella⁸⁹³,di Girolamo Maria Grazia⁴⁵²³,Di Stefano Cristina¹⁰¹¹⁹³,Durante Adriano¹²⁹³,Franzese Giovanni¹³¹⁴³,Franzese Ignazio¹⁰¹¹⁹³,Gallo Giovanna⁴⁵²³,Giliberti Paolo¹⁵²³,Ingenito Laura¹²³,Ippolito Giovanni¹⁶⁹³,Malamisura Basilio¹⁷¹⁸⁹³,Mazzeo Pietro¹⁹⁹³,Norma Antonella²⁰⁹³,Ombrone Daniela¹²³,Parenti Giancarlo²¹²²⁵²³,Pellecchia Silvana²³²⁴⁹³,Pecce Rita⁴⁵²³,Pierucci Ippolito²⁵⁹³,Romanelli Roberta¹²³⁴⁵,Rossi Anna²⁶²⁷⁹³,Siano Massimo¹²⁹³,Stoduto Teodoro¹⁶⁹³,Villani Guglielmo R. D.¹²³⁴⁵,Andria Generoso²¹²²⁵²³,Salvatore Francesco¹²³⁴⁵,Frisso Giulia¹²³⁴⁵,Ruoppolo Margherita¹²³⁴⁵

Affiliation:

1. CEINGE-Biotecnologie Avanzate scarl

2. Napoli

3. Italy

4. Dipartimento di Medicina Molecolare e Biotecnologie Mediche

5. Università degli Studi di Napoli “Federico II”

6. A.O. Sant'Anna e S. Sebastiano

7. Caserta

8. A.O. San Giovanni di Dio e Ruggi D'Aragona

9. Salerno

10. Terapia Intensiva Neonatale

11. Ospedale “Umberto I” Nocera Inferiore

12. Presidio Ospedaliero “Martiri Villa Malta”, Sarno

13. Università degli Studi “Magna Graecia”

14. Catanzaro

15. Opedale “Monaldi”

16. Presidio Ospedaliero “Luigi Curto”, Polla

17. Ospedale S. Maria Incoronata dell'Olmo

18. Cava de' Tirreni

19. Ospedale “San Francesco d'Assisi”, Oliveto Citra

20. Ospedale Maria SS. Addolorata, Eboli

21. Dipartimento di Scienze Mediche Traslazionali

22. Sezione di Pediatria

23. Ospedale Amico “Gaetano Fucito”

24. Mercato San Severino

25. Presidio Ospedaliero dell'Immacolata, Sapri

26. Ospedale San Luca

27. Vallo della Lucania

Abstract

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.

Funder

Regione Campania

Publisher

Royal Society of Chemistry (RSC)

Subject

Molecular Biology,Biotechnology

Link

http://pubs.rsc.org/en/content/articlepdf/2015/MB/C4MB00729H

Reference30 articles.

1. Mass spectrometry in clinical chemistry: the case of newborn screening

2. Rapid 2nd-Tier Test for Measurement of 3-OH-Propionic and Methylmalonic Acids on Dried Blood Spots: Reducing the False-Positive Rate for Propionylcarnitine during Expanded Newborn Screening by Liquid Chromatography–Tandem Mass Spectrometry

3. Second-Tier Test for Quantification of Alloisoleucine and Branched-Chain Amino Acids in Dried Blood Spots to Improve Newborn Screening for Maple Syrup Urine Disease (MSUD)