Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population

Demirelce Ö., Aksungar F., Saral N., Kilercik M., Serteser M., Unsal I.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, sa.6, ss.703-711, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 6
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2019-0571
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.703-711
  • Anahtar Kelimeler: inborn errors of metabolism, newborn screening, tandem mass spectrometry, MASS-SPECTROMETRY, BLOOD SPOTS, ERRORS, PROGRAM, UPDATE, AMINO
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

Background: The tandem mass spectrometry method in the screening of congenital metabolic disorders is not included in routine national newborn screening programmes in Turkey. To evaluate the distribution of acylcarnitines and amino acid levels in normal newborns, establish acylcarnitine and amino acid cutoff levels and further preliminary results of inherited metabolic disorders inferentially in the Turkish population.