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, cilt.27, sa.5, 2017 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 5
  • Basım Tarihi: 2017
  • Doi Numarası: 10.5812/ijp.11323
  • Dergi Adı: IRANIAN JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Inborn Errors of Etabolism, Reference Values, Cutoff, TANDEM MASS-SPECTROMETRY, BLOOD SPOTS, DISORDERS, CHILDREN, PROGRAM, AMINO
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.