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Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji Cover

References

  1. 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.2011.11.191
  2. 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.
  3. 3. Therrell BL, Adams J. Newborn screening in North America. J Inherit Metab Dis 2007; 30: 447-65.10.1007/s10545-007-0690-z
  4. 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.
  5. 5. Padilla CD, Therrell BL. Newborn screening in the Asia Pacific region. J Inherit Metab Dis 2007; 30: 490-506.10.1007/s10545-007-0687-7
  6. 6. Sarnavka V. Rezultati metaboličkog probira u Hrvatskoj. Hrvat Časopis Javno Zdr 2005; 1.
  7. 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.
  8. 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.
  9. 9. Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet 2010; 376: 1417-27.10.1016/S0140-6736(10)60961-0
  10. 10. Rastogi M V, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis 2010; 5: 17.10.1186/1750-1172-5-17290352420537182
  11. 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.53.3.179175684010396496
  12. 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.x16398841
  13. 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: 71-9.10.1086/30192013772419634518
  14. 14. Loeber JG. Neonatal screening in Europe: the situation in 2004. J Inherit Metab Dis 2007; 30: 430-8.10.1007/s10545-007-0644-517616847
  15. 15. MacCready RA, Hussey MG. Newborn phenylketonuria detection program in Massachusetts. Am J Public Health Nations Health 1964; 54: 2075-81.10.2105/AJPH.54.12.2075
  16. 16. Harms E, Olgemöller B. Neonatal screening for metabolic and endocrine disorders. Dtsch Arztebl Int 2011; 108: 11-21.10.3238/arztebl.2011.0011302639821285998
  17. 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.
  18. 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.2013017183573
  19. 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.2009.12.00320207262
  20. 20. Levy HL. Newborn screening by tandem mass spectrometry: a new era. Clin Chem 1998; 44: 2401-2.10.1093/clinchem/44.12.2401
  21. 21. Sweetman L. Newborn screening by tandem mass spectrometry: gaining experience. Clin Chem 2001; 47: 1937-8.10.1093/clinchem/47.11.1937
  22. 22. Sweetman L. Newborn screening by tandem mass spectrometry (MSMS). Clin Chem 1996; 42: 345-6.10.1093/clinchem/42.3.345
  23. 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.152819034889
  24. 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.2014.07.02025174966
  25. 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.
  26. 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/s10545-007-0492-318188679
  27. 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.2014.07.01825102806
  28. 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/NEJMoa02522512788994
  29. 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.111.6.139912777559
  30. 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.2005-202616882794
  31. 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.2008-058619620191
  32. 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/s00508-010-1457-320938748
  33. 33. Pollitt RJ. Introducing new screens: why are we all doing different things? J Inherit Metab Dis 2007; 30: 423-9.
  34. 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.2005-229416740831
  35. 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.111.6.1399
  36. 36. Grošelj U, Tanšek MŽ, Podkrajšek KT, Battelino T. Genetske in klinične značilnosti bolnikov s fenilketonurijo v Sloveniji. Zdrav Vestn 2013; 82: 767-77.
  37. 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-07-003717468186
  38. 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.2009.09.00519800826
  39. 39. Tanšek MŽ. Fenilketonurija - zgodba o uspešnem zdravljenju presnovne bolezni. Slov Pediatr 2003; 10: 225-35.
  40. 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.2010.10.00621094953
DOI: https://doi.org/10.1515/sjph-2015-0013 | Journal eISSN: 1854-2476 | Journal ISSN: 0351-0026
Language: English
Page range: 86 - 90
Submitted on: Nov 7, 2014
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Accepted on: Jan 13, 2015
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Published on: Mar 13, 2015
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2015 Andraž Šmon, Urh Grošelj, Mojca Žerjav Tanšek, Ajda Biček, Adrijana Oblak, Mirjana Zupančič, Ciril Kržišnik, Barbka Repič Lampret, Simona Murko, Sergej Hojker, Tadej Battelino, published by National Institute of Public Health, Slovenia
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.