Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.6, pp.703-711, 2020 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 33 Issue: 6
- Publication Date: 2020
- Doi Number: 10.1515/jpem-2019-0571
- Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
- Page Numbers: pp.703-711
- Keywords: inborn errors of metabolism, newborn screening, tandem mass spectrometry, MASS-SPECTROMETRY, BLOOD SPOTS, ERRORS, PROGRAM, UPDATE, AMINO
- Acibadem Mehmet Ali Aydinlar University Affiliated: Yes
Abstract
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.