NeoScreen: A software application for MS/MS newborn screening analysis

Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)

Volumn 3337, Issue , 2004, Pages 450-457

  Pinheiro, Miguel ^a   Oliveira, José Luís ^a   Santos, Manuel A S ^a   Rocha, Hugo ^b   Cardoso, M Luis ^b   Vilarinho, Laura ^b  

^a UNIVERSITY OF AVEIRO   (Portugal)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

MS MS; Newborn Screening Software

Indexed keywords

APPLICATION PROGRAMS; DATA HANDLING; INFORMATION ANALYSIS; MASS SPECTROMETRY;

AMOUNT OF INFORMATION; DRIED BLOOD SPOTS; METABOLIC DISORDERS; MS/MS; NEWBORN SCREENING; SOFTWARE APPLICATIONS; SOFTWARE SYSTEMS; TANDEM MASS SPECTROMETRY;

DIAGNOSIS;

EID: 35048821027     PISSN: 03029743     EISSN: 16113349     Source Type: Book Series    
DOI: 10.1007/978-3-540-30547-7_45     Document Type: Article

References (13)

1. S. A. Banta-Wright and R. D. Steiner, "Tandem Mass Spectrometry in Newborn Screening: A Primer for Neonatal and Perinatal Nurses", Journal of Perinatal and Neonatal Nursing, vol. 18, no. 1, pp. 41-60, 2004.
2. K. H. Carpenter and V. Wiley, "Application of tandem mass spectrometry to biochemical genetics and newborn screening", Clinica Chimica Acta, Elsevier Science, vol. 322, pp. 1-10, 2002.
3. D. H. Chace, J. E. Sherwin, S. L. Hillman, F. Lorey, and G. C. Cunningham, "Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours", Clinical Chemistry, vol. 12, no. 44, pp. 2405-2409, 1998.
4. E. W. Naylor, H. Donald, and D. H. Chace, "Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid and Amino Acid Metabolism", Child Neurol, vol. 14, pp. S1S4, 1999.
5. ACMG/ASHG Working Group, "Tandem mass spectrometry in newborn screening", vol. 2, no. 4, pp. 267-269, 2002.
6. D. Matem and M. J. Magera, "Mass Spectrometry Methods for Metabolic and Health Assessment", American Society for Nutritional Sciences, vol. 131, pp. 1615S-20S, 2001.
7. R. Guthrie, "The introduction of newborn screening for phenylketonuria. A personal history." Eur J Pediatr., vol. 155 Suppl 1, pp. S4-5, 1996.
8. D. Matern and P. Rinaldo, "Opportunities and Challenges of Tandem Mass Spectrometry", Clinical Laboratory News, vol. 185, pp. 12-15, 2003.
9. D. H. Chace and E. W. Naylor, "Expantion of newborn screening programs using automated tandem mass spectrometry", Mental retardation and developmental disabilities research reviews, vol. 5, pp. 150-154, 1999.
10. M. Marble and F. P. Hooper, "Expanded Newborn Screening for Metabolic Disease", A Pratical Review of Advances in Pediatrics From Children's Hospital, vol. 8, no. 6, 2004.
11. CDC, "Using tandem mass spectrometry for metabolic disease screening among newborns", MMWR, vol. 50, pp. 1-22, 2001.
12. Centers of Disease Control and Prevention (CDC), http://www.cdc.gov/nceh/dls/newborn_screening.htm
13. R. V. Osório, "Twenty five years of newborn screening in Portugal", in XL Conferências de Genética (in Portuguese), Porto, Portugal, 2004.