Selective Screening for Inborn Errors of Metabolism: A Report of Six Years Experience

Dogan E., UYSAL S., ÖZTÜRK Y., ARSLAN N., Coker C.

IRANIAN JOURNAL OF PEDIATRICS, vol.27, no.5, 2017 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 5
  • Publication Date: 2017
  • Doi Number: 10.5812/ijp.11323
  • Journal Name: IRANIAN JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Inborn Errors of Etabolism, Reference Values, Cutoff, TANDEM MASS-SPECTROMETRY, BLOOD SPOTS, DISORDERS, CHILDREN, PROGRAM, AMINO
  • Dokuz Eylül University Affiliated: Yes

Abstract

Background: Tandem MS analysis of dried blood spots is a widely used method for diagnosis of inborn errors of metabolism. Clinical laboratories performing this test for clinically suspected children at different ages are faced with the challenge of using appropriate reference ranges for the diagnostic markers.