1. Van Karnebeek CDM, Stockler S. Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. Mol Genet Metab 2012; 105: 368-81.10.1016/j.ymgme.2011.11.191Search in Google Scholar

2. Howell R, Terry S, Tait VF, Olney R, Hilton CF, Grosse S. et al. CDC grand rounds: newborn screening and improved outcomes. MMWR Morb Mortal Wkly Rep 2012; 61: 390-3.Search in Google Scholar

3. Therrell BL, Adams J. Newborn screening in North America. J Inherit Metab Dis 2007; 30: 447-65.10.1007/s10545-007-0690-zSearch in Google Scholar

4. Burgard P, Cornel M, Filippo FD. Report on the practices of newborn screening for rare disorders implemented in member states of the European Union, candidate, potential candidate and EFTA countries. 2012.Search in Google Scholar

5. Padilla CD, Therrell BL. Newborn screening in the Asia Pacific region. J Inherit Metab Dis 2007; 30: 490-506.10.1007/s10545-007-0687-7Search in Google Scholar

6. Sarnavka V. Rezultati metaboličkog probira u Hrvatskoj. Hrvat Časopis Javno Zdr 2005; 1.Search in Google Scholar

7. Battelino T, Kržišnik C, Pavlin K. Early detection and follow up of children with phenylketonuria in Slovenia. Zdrav Vestn 1994; 63(Suppl 1): s25-8.Search in Google Scholar

8. Kržišnik C, Battelino T, Bratanič N, Hojker S, Pavlin K, Žerjav-Tanšek M. et al. Results of screening for congenital hypothyroidism during the ten-year period (1981-1991) in Slovenia. Zdrav Vestn 1994; 63(Suppl 1): s29-31.Search in Google Scholar

9. Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet 2010; 376: 1417-27.10.1016/S0140-6736(10)60961-0Search in Google Scholar

10. Rastogi M V, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis 2010; 5: 17.10.1186/1750-1172-5-17290352420537182Search in Google Scholar

11. Lord J, Thomason MJ, Littlejohns P, Chalmers RA, Bain MD, Addison GM. et al. Secondary analysis of economic data: a review of costbenefit studies of neonatal screening for phenylketonuria. J Epidemiol Community Health 1999; 53: 179-86.10.1136/jech.53.3.179175684010396496Search in Google Scholar

12. Geelhoed EA, Lewis B, Hounsome D, O’Leary P. Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism. J Paediatr Child Health 2005; 41: 575-9.10.1111/j.1440-1754.2005.00725.x16398841Search in Google Scholar

13. Guldberg P, Rey F, Zschocke J, Romano V, François B, Michiels L. et al. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 1998; 63: 71-9.10.1086/30192013772419634518Search in Google Scholar

14. Loeber JG. Neonatal screening in Europe: the situation in 2004. J Inherit Metab Dis 2007; 30: 430-8.10.1007/s10545-007-0644-517616847Search in Google Scholar

15. MacCready RA, Hussey MG. Newborn phenylketonuria detection program in Massachusetts. Am J Public Health Nations Health 1964; 54: 2075-81.10.2105/AJPH.54.12.2075Search in Google Scholar

16. Harms E, Olgemöller B. Neonatal screening for metabolic and endocrine disorders. Dtsch Arztebl Int 2011; 108: 11-21.10.3238/arztebl.2011.0011302639821285998Search in Google Scholar

17. Loeber JG, Burgard P, Cornel MC, Rigter T, Weinreich SS, Rupp K. et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inherit Metab Dis 2012; 35: 603-11.Search in Google Scholar

18. Rinaldo P, Zafari S, Tortorelli S, Matern. Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Ment Retard Dev Disabil Res Rev 2006; 12: 255-61.10.1002/mrdd.2013017183573Search in Google Scholar

19. De Jesús VR, Mei JV, Bell CJ, Hannon WH. Improving and assuring newborn screening laboratory quality worldwide: 30-year experience at the Centers for Disease Control and Prevention. Semin Perinatol 2010; 34: 125-33.10.1053/j.semperi.2009.12.00320207262Search in Google Scholar

20. Levy HL. Newborn screening by tandem mass spectrometry: a new era. Clin Chem 1998; 44: 2401-2.10.1093/clinchem/44.12.2401Search in Google Scholar

21. Sweetman L. Newborn screening by tandem mass spectrometry: gaining experience. Clin Chem 2001; 47: 1937-8.10.1093/clinchem/47.11.1937Search in Google Scholar

22. Sweetman L. Newborn screening by tandem mass spectrometry (MSMS). Clin Chem 1996; 42: 345-6.10.1093/clinchem/42.3.345Search in Google Scholar

23. Chace DH. Mass spectrometry in newborn and metabolic screening: historical perspective and future directions. J Mass Spectrom 2009; 44: 163-70.10.1002/jms.152819034889Search in Google Scholar

24. Groselj U, Tansek MZ, Smon A, Angelkova N, Anton D, Baric I. et al. Newborn screening in southeastern Europe. Mol Genet Metab 2014; 113: 42-5.10.1016/j.ymgme.2014.07.02025174966Search in Google Scholar

25. Smon A, Murko S, Repic Lampret B, Battelino T. Pilot research on expanding Slovenian newborn screening programme for inherited metabolic disorders detectable by tandem mass spectrometry. Chem Listy 2014; 108: s182-6.Search in Google Scholar

26. Derks TG, Boer TS, van Assen A, Bos T, Ruiter J, Waterham MR. et al. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. J Inherit Metab Dis 2008; 31: 88-96.10.1007/s10545-007-0492-318188679Search in Google Scholar

27. Lim JS, Tan ES, John CM, Poh S, Yeo SJ, Ang JSM. et al. Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionizationtandem mass spectrometry (ESI/MS/MS): an 8 year journey from pilot to current program. Mol Genet Metab 2014; 113: 53-61.10.1016/j.ymgme.2014.07.01825102806Search in Google Scholar

28. Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003; 348: 2304-1210.1056/NEJMoa02522512788994Search in Google Scholar

29. Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GC. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003; 116: 1399-406.10.1542/peds.111.6.139912777559Search in Google Scholar

30. Tarini BA, Christakis DA, Welch HG. State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics 2006; 118: 448-56.10.1542/peds.2005-202616882794Search in Google Scholar

31. Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carpenter K. et al. Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics 2009; 124: 241-8.10.1542/peds.2008-058619620191Search in Google Scholar

32. Kasper DC, Ratschmann R, Metz TF, Mechtler TP, Möslinger D, Konstantopoulou V. et al. The national Austrian newborn screening program - eight years experience with mass spectrometry: past, present, and future goals. Wien Klin Wochenschr 2010; 122: 607-13.10.1007/s00508-010-1457-320938748Search in Google Scholar

33. Pollitt RJ. Introducing new screens: why are we all doing different things? J Inherit Metab Dis 2007; 30: 423-9.Search in Google Scholar

34. Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics 2006; 117: 1915-21.10.1542/peds.2005-229416740831Search in Google Scholar

35. Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization - tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003; 111: 1399-406.10.1542/peds.111.6.1399Search in Google Scholar

36. Grošelj U, Tanšek MŽ, Podkrajšek KT, Battelino T. Genetske in klinične značilnosti bolnikov s fenilketonurijo v Sloveniji. Zdrav Vestn 2013; 82: 767-77.Search in Google Scholar

37. Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C. et al. High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. Eur J Endocrinol 2007; 156: 511-9.10.1530/EJE-07-003717468186Search in Google Scholar

38. Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A. et al. Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab 2010; 99: 109-15.10.1016/j.ymgme.2009.09.00519800826Search in Google Scholar

39. Tanšek MŽ. Fenilketonurija - zgodba o uspešnem zdravljenju presnovne bolezni. Slov Pediatr 2003; 10: 225-35.Search in Google Scholar

40. Balhara B, Misra M, Levitsky LL. Clinical monitoring guidelines for congenital hypothyroidism: laboratory outcome data in the first year of life. J Pediatr 2011; 158: 532-7.10.1016/j.jpeds.2010.10.00621094953Search in Google Scholar

Publication timeframe:
4 times per year
Journal Subjects:
Medicine, Clinical Medicine, Hygiene and Environmental Medicine