This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Lanpher B, Brunetti-Pierri N, Lee B. Inborn errors of metabolism: the flux from Mendelian to complex diseases. Nat Rev Genet. 2006;7(6):449-59. doi: 10.1038/nrg1880.LanpherBBrunetti-PierriNLeeBInborn errors of metabolism: the flux from Mendelian to complex diseases2006764495910.1038/nrg188016708072Open DOISearch in Google Scholar
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(23): 2304-12. doi: 10.1056/NEJMoa025225.WilckenBWileyVHammondJCarpenterKScreening newborns for inborn errors of metabolism by tandem mass spectrometry20033482323041210.1056/NEJMoa02522512788994Open DOISearch in Google Scholar
Howell RR, Terry S, Tait VF, Olney R, Hinton CF, Grosse S, et al. CDC grand rounds: newborn screening and improved outcomes. MMWR. 2012;61(21): 390-3.HowellRRTerrySTaitVFOlneyRHintonCFGrosseSet alCDC grand rounds: newborn screening and improved outcomes201261213903Search in Google Scholar
Harms E, Olgemöller B. Neonatal screening for metabolic and endocrine disorders. Dtsch Arztebl Int. 2011;108(1-2):11-21. doi: 10.3238/arztebl.2011.0011.HarmsEOlgemöllerBNeonatal screening for metabolic and endocrine disorders20111081-2112110.3238/arztebl.2011.0011302639821285998Open DOISearch in Google Scholar
Šmon A, Lampret Repič B, Žerjav Tanšek M, et al. Razširjeno presejanje novorojencev v Sloveniji. In: XXXVI. Derčevi dnevi. 2018 Jun 1–2. Ljubljana: Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, 2018.ŠmonALampretRepič BŽerjavTanšek Met alRazširjeno presejanje novorojencev v Sloveniji2018Jun 1–2LjubljanaKatedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani2018Search in Google Scholar
Chace DH. Mass spectrometry in newborn and metabolic screening: historical perspective and future directions. J Mass Spectrom. 2009;44(2):163-70. doi: 10.1002/jms.1528.ChaceDHMass spectrometry in newborn and metabolic screening: historical perspective and future directions20094421637010.1002/jms.152819034889Open DOISearch in Google Scholar
Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem. 2003;49(11):1797–817.ChaceDHKalasTANaylorEWUse of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns20034911179781710.1373/clinchem.2003.02217814578311Search in Google Scholar
Šmon A. Opredelitev kriterijev za razširjeno presejanje novorojencev za vrojene bolezni presnove: doctoral thesis. Ljubljana: University of Ljubljana, 2018.ŠmonALjubljanaUniversity of Ljubljana2018Search in Google Scholar
Navodilo za izvajanje razširjenega presejanja novorojencev v Sloveniji. Pediatrična klinika, Univerzitetni klinični center Ljubljana. Accessed April 3rd, 2020 at: https://www.redkebolezni.si/ustanova/laboratoriji/ljubljana/sluzba-za-specialno-laboratorijsko-diagnostiko/Accessed April 3rd2020https://www.redkebolezni.si/ustanova/laboratoriji/ljubljana/sluzba-za-specialno-laboratorijsko-diagnostiko/Search in Google Scholar
Šmon A, Repič Lampret B, Grošelj U, et al. Next generation sequencing as a follow-up test in an expanded newborn screening program. Clin Biochem. 2018;52:48-55. doi: 10.1016/j.clinbiochem.2017.10.016.ŠmonARepičLampret BGrošeljUet alNext generation sequencing as a follow-up test in an expanded newborn screening program201852485510.1016/j.clinbiochem.2017.10.01629111448Open DOISearch in Google Scholar
Grošelj U, Šmon A, Žerjav Tanšek M, et al. Expanded newborn screening (NBS) program in Slovenia. In: 6th Slovenian Congress of Endocrinology. Bled: ZES, 2018.GrošeljUŠmonAŽerjavTanšek Met alExpanded newborn screening (NBS) program in SloveniaBledZES2018Search in Google Scholar
Battelino T, Kržišnik C, Pavlin K. Early detection and follow-up of children with phenylketonuria in Slovenia. Zdrav Vestn. 1994;63(Suppl 1):25-8.BattelinoTKržišnikCPavlinKEarly detection and follow-up of children with phenylketonuria in Slovenia199463Suppl 1258Search in Google Scholar
Kržišnik C, Battelino T, Bratanič N, et al. Results of screening for congenital hypothyroidism during the ten-year period (1981–1991) in Slovenia. Zdrav Vestn. 1994;63(Suppl 1):29-31.KržišnikCBattelinoTBrataničNet alResults of screening for congenital hypothyroidism during the ten-year period (1981–1991) in Slovenia199463Suppl 12931Search in Google Scholar
Šmon A, Grošelj U, Žerjav Tanšek M, et al. Newborn screening in Slovenia. Zdr Varst. 2015;54(2):86-90. doi: 10.1515/sjph-2015-0013.ŠmonAGrošeljUŽerjavTanšek Met alNewborn screening in Slovenia2015542869010.1515/sjph-2015-0013482017227646913Open DOISearch in Google Scholar
Loeber JG. Neonatal screening in Europe: the situation in 2004. J Inherit Metab Dis. 2007;30:430-8. doi: 10.1007/s10545-007-0644-5.LoeberJGNeonatal screening in Europe: the situation in 2004200730430810.1007/s10545-007-0644-517616847Open DOISearch in Google Scholar
Repič Lampret B, Murko S, Žerjav Tanšek M, et al. Selective screening for metabolic disorders in the Slovenian pediatric population. J Med Biochem. 2015;34:58-63. doi: 10.2478/jomb-2014-0056.RepičLampret BMurkoSŽerjavTanšek Met alSelective screening for metabolic disorders in the Slovenian pediatric population201534586310.2478/jomb-2014-0056492233528356825Open DOISearch in Google Scholar
Harding C, LaFranchi SL, Thomas G, et al. The northwest regional newborn screening program; Oregon practicioner’s manual. 9th ed. Oregon: Oregon Health and Science University, 2010.HardingCLaFranchiSLThomasGet alOregonOregon Health and Science University2010Search in Google Scholar
Obvestilo za starše in skrbnike. Nacionalni program presejanja novorojencev za izbrane prirojene bolezni. Accessed April 3rd, 2020 at: https://www.redkebolezni.si/assets1191/wp-content/uploads/2016/05/Redke-bolezni_Obvestilo-za-starse-o-presejalnihtestih-novorojencev.pdf?x85004Accessed April 3rd2020https://www.redkebolezni.si/assets1191/wp-content/uploads/2016/05/Redke-bolezni_Obvestilo-za-starse-o-presejalnihtestih-novorojencev.pdf?x85004Search in Google Scholar
Repič Lampret B, Šmon A, Čuk V. Laboratorijska diagnostika vrojenih bolezni presnove. In: XXXVI. Derčevi dnevi. 2018 Jun 1–2. Ljubljana: Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, 2018.RepičLampret BŠmonAČukVLaboratorijska diagnostika vrojenih bolezni presnove2018Jun 1–2LjubljanaKatedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani2018Search in Google Scholar
Rousseau F, Giguere Y, Berthier MT, et al. Newborn screening by tandem mass spectrometry: impacts, implications and perspectives. In: Prasain JK, editor. Tandem mass spectrometry – applications and principles. London: IntechOpen, 2012:751-76.RousseauFGiguereYBerthierMTet alNewborn screening by tandem mass spectrometry: impacts, implications and perspectivesPrasainJKLondonIntechOpen2012751–76Search in Google Scholar
Pravilnik o spremembi Pravilnika za izvajanje preventivnega zdravstvenega varstva na primarni ravni. Uradni list RS. 47/2018.Search in Google Scholar
MacReady RA, Hussey MG. Newborn phenylketonuria detection program in Massachussets. Am J Public Heal Nations Heal. 1964;54(12):2075¬–81.MacReadyRAHusseyMGNewborn phenylketonuria detection program in Massachussets196454122075¬–8110.2105/AJPH.54.12.2075125512414240515Search in Google Scholar
Burgard P, Cornel M, Filippo F, et al. Report on the practices of newborn screening for rare disorders implemented in member states of the European Union, candidate, potential candidate and EFTA countries. Accessed April 11th, 2019 at: http://old.iss.it/binary/cnmr/cont/Report_NBS_Current_Practices_20120108_FINAL.pdfBurgardPCornelMFilippoFet alReport on the practices of newborn screening for rare disorders implemented in member states of the European Union, candidate, potential candidate and EFTA countries2019http://old.iss.it/binary/cnmr/cont/Report_NBS_Current_Practices_20120108_FINAL.pdfSearch in Google Scholar
Padilla CD, Therell BL. Newborn screening in the Asia Pacific region. J Inherit Metab Dis. 2007;30(4):490-506. doi: 10.1007/s10545-007-0687-7.PadillaCDTherellBLNewborn screening in the Asia Pacific region200730449050610.1007/s10545-007-0687-717643195Open DOISearch in Google Scholar
Therell BL, Adams J. Newborn screening in North America. J Inherit Metab Dis. 2007;30(4):447-65. doi: 10.1007/s10545-007-0690-z.TherellBLAdamsJNewborn screening in North America20073044476510.1007/s10545-007-0690-z17643194Open DOISearch in Google Scholar
Osterreichisches Neugeborenen-Screening. Eine Einrichtung an der Universtitatsklinik für Kinder- und Jugendheilkunde zur Früherfassung von angeborenen Erkrankungen. Medizinische Universität Wien. Accessed April 11th, 2019 at: https://www.meduniwien.ac.at/hp/fileadmin/neugeborenenscreening/pdf/Folder_Neugeborenen_Screening_06.2018.pdfAccessed April 11th2019https://www.meduniwien.ac.at/hp/fileadmin/neugeborenenscreening/pdf/Folder_Neugeborenen_Screening_06.2018.pdfSearch in Google Scholar
Deutsche Gesellschaft für Neugeborenenscreening e. V. Zielerkrankungen im Neugeborenenscreening. Accessed April 11th, 2019 at: http://www.screening-dgns.de/krankheiten.phpAccessed April 11th2019http://www.screening-dgns.de/krankheiten.phpSearch in Google Scholar
Neugeborenen Screening Schweiz. Kinderspital Zurich, 2018. Accessed April 11th, 2019 at: http://www.neoscreening.ch/display.cfm/id/100552/disp_type/dmssimple/pageID/791902018Accessed April 11th, 2019 athttp://www.neoscreening.ch/display.cfm/id/100552/disp_type/dmssimple/pageID/79190Search in Google Scholar
Program national de depistage neonatal. Ministere des Solidarites et de la Sante. Accessed April 11th, 2019 at: https://solidarites-sante.gouv.fr/soins-et-maladies/prises-en-charge-specialisees/maladies-rares/DNNAccessed April 11th2019https://solidarites-sante.gouv.fr/soins-et-maladies/prises-en-charge-specialisees/maladies-rares/DNNSearch in Google Scholar
Depistage neonatal des maladies metaboliques et endocriniennes. Cliniques universitaires Saint-Luc Bruxelles. Accessed April 11th, 2019 at: https://www.saintluc.be/laboratoires/activites/biologie-clinique/biochimie/depistage-neonatal.phpAccessed April 11th2019https://www.saintluc.be/laboratoires/activites/biologie-clinique/biochimie/depistage-neonatal.phpSearch in Google Scholar
Ohlsson A. Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galatosemia and biotinidase deficiency. Karolinska Instituet, Stockholm, 2016. Accessed April 11th, 2019 at: https://pdfs.semanticscholar.org/08c9/51078a0bf299a3d689599ed6ac25c1a0ee20.pdfOhlssonANeonatal screening in Sweden and disease-causing variants in phenylketonuria, galatosemia and biotinidase deficiency2016Accessed April 11th, 2019 athttps://pdfs.semanticscholar.org/08c9/51078a0bf299a3d689599ed6ac25c1a0ee20.pdfSearch in Google Scholar
Statens Serum Institut. Screening for medfødte sygdomme. Accessed April 11th, 2019 at: https://www.ssi.dk/sygdomme-beredskab-ogforskning/screening-for-medfodte-sygdommeAccessed April 11th2019https://www.ssi.dk/sygdomme-beredskab-ogforskning/screening-for-medfodte-sygdommeSearch in Google Scholar
Health Service Executive. A practical guide to newborn bloodspot screening in Ireland. 7th edition. Dublin, 2018. Accessed April 11th, 2019 at: https://www.hse.ie/eng/health/child/newbornscreening/newbornbloodspotscreening/information-for-professionals/a-practical-guide-to-newborn-bloodspot-screening-in-ireland.pdfDublin2018Accessed April 11th, 2019 athttps://www.hse.ie/eng/health/child/newbornscreening/newbornbloodspotscreening/information-for-professionals/a-practical-guide-to-newborn-bloodspot-screening-in-ireland.pdfSearch in Google Scholar
Public health England. Screening tests for you and your baby, 2017. Accessed April 11th, 2019 at: https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/696849/Screening_tests_for_you_and_your_baby.pdf2017Accessed April 11th, 2019 athttps://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/696849/Screening_tests_for_you_and_your_baby.pdfSearch in Google Scholar
The Newborn Metabolic Screening Program. Your newborn baby’s blood test. New Zealand Government, 2017. Accessed April 11th, 2019 at: https://www.nsu.govt.nz/system/files/resources/your-newborn-babys-blood-text-oct17.pdf2017Accessed April 11th, 2019 athttps://www.nsu.govt.nz/system/files/resources/your-newborn-babys-blood-text-oct17.pdfSearch in Google Scholar
The Sydney children’s hospital network. NSW Newborn Screening. Accessed April 11th, 2019 at: https://www.schn.health.nsw.gov.au/find-a-service/laboratory-services/nsw-newborn-screening/disordersAccessed April 11th2019https://www.schn.health.nsw.gov.au/find-a-service/laboratory-services/nsw-newborn-screening/disordersSearch in Google Scholar
Newborn screening in Canada status report. Canadian PKU and Allied Disorders Inc., 2015. Accessed April 11th, 2019 at: https://www.raredisorders.ca/content/uploads/Canada-NBS-status-updated-Sept.-3-2015.pdf2015Accessed April 11th, 2019 athttps://www.raredisorders.ca/content/uploads/Canada-NBS-status-updated-Sept.-3-2015.pdfSearch in Google Scholar
Newborn screening for your baby’s health. New York State Department of Health. Accessed April 11th, 2019 at: https://www.wadsworth.org/sites/default/files/WebDoc/1666822457/FYBH_English.pdfAccessed April 11th2019https://www.wadsworth.org/sites/default/files/WebDoc/1666822457/FYBH_English.pdfSearch in Google Scholar
Therell BL, Padilla CD, Loeber JG. Current status of newborn screening worldwide: 2015. Semin Perinatology. 2015;39:171-87. doi: 10.1053/j.semperi.2015.03.002.TherellBLPadillaCDLoeberJGCurrent status of newborn screening worldwide: 20152015391718710.1053/j.semperi.2015.03.00225979780Open DOISearch in Google Scholar
Grošelj U, Tanšek MZ, Šmon A, et al. Newborn screening in Southeastern Europe. Mol Genet Metab. 2014;113:42-5. doi: 10.1016/j.ymgme.2014.07.020.GrošeljUTanšekMZŠmonAet alNewborn screening in Southeastern Europe201411342510.1016/j.ymgme.2014.07.02025174966Open DOISearch in Google Scholar
Grošelj U, Tanšek MZ, Battelino T. Fifty years of phenylketonuria newborn screening - a great success for many, but what about the rest? Mol Genet Metab. 2014;113(1-2):8-10. doi: 10.1016/j.ymgme.2014.07.019.GrošeljUTanšekMZBattelinoTFifty years of phenylketonuria newborn screening - a great success for many, but what about the rest?20141131-281010.1016/j.ymgme.2014.07.01925174964Open DOISearch in Google Scholar
Bilandžija I, Barić I, Škaričić A, et al. Program proširenog novorodenačkog probira u Republici Hrvatskoj – zahtjevi i izazovi pravilnog uzimanja suhe kapi krvi. Peadiatr Croat. 2018;62(Suppl 1):10-4.BilandžijaIBarićIŠkaričićAet alProgram proširenog novorodenačkog probira u Republici Hrvatskoj – zahtjevi i izazovi pravilnog uzimanja suhe kapi krvi201862Suppl 1104Search in Google Scholar
Centers for Disease Control and Prevention. Using tandem mass spectrometry for metabolic disease screening among newborns. MMWR. 2001;50:1-22.Centers for Disease Control and Prevention200150122Search in Google Scholar
American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group. Tandem mass spectrometry in newborn screening. Genet Med. 2000;2:267-9. doi: 10.1097/00125817-200007000-00011.American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group. Tandem mass spectrometry in newborn screening20002267910.1097/00125817-200007000-0001111252712Open DOISearch in Google Scholar
Naylor EW, et al. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol. 1999;14(Suppl 1):S4-8. doi: doi.org/10.1177/0883073899014001021.NaylorEWet alAutomated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism199914Suppl 1S48doi.org/10.1177/0883073899014001021Open DOISearch in Google Scholar
Žerjav Tanšek M, Grošelj U, Murko S, et al. Assessment of tetrahydrobiopterin (BH4)-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population. Mol Genet Metab. 2012;107(1/2):37-42. doi: 10.1016/j.ymgme.2012.07.010.ŽerjavTanšek MGrošeljUMurkoSet alAssessment of tetrahydrobiopterin (BH4)-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population20121071/2374210.1016/j.ymgme.2012.07.01022917871Open DOISearch in Google Scholar
Staudigl M, Gersting SW, Danecka DD, et al. The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. Hum Mol Genet. 2011;20:2628-41. doi: 10.1093/hmg/ddr165.StaudiglMGerstingSWDaneckaDDet alThe interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response20112026284110.1093/hmg/ddr16521527427Open DOISearch in Google Scholar
Karacic I, Meili D, Sarnavka V, et al. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. Mol Genet Metab. 2009:97;165-71. doi: 10.1016/j.ymgme.KaracicIMeiliDSarnavkaVet alGenotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency200997165–7110.1016/j.ymgmeOpen DOISearch in Google Scholar
Matern D. Acylcarnitines. Physician’s guide to diagnosis, treatment and follow-up of inherited metabolic diseases. Berlin Heidelberg: Springer-Verlag, 2014:775-84.MaternDBerlin HeidelbergSpringer-Verlag2014775–8410.1007/978-3-642-40337-8_51Search in Google Scholar
Holm IA, Agrawal PB, Ceyhan-Birsoy O, et al. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018;18(1):225. doi: 10.1186/s12887-018-1200-1.HolmIAAgrawalPBCeyhan-BirsoyOet alThe BabySeq project: implementing genomic sequencing in newborns201818122510.1186/s12887-018-1200-1603827429986673Open DOISearch in Google Scholar
Wilson JM, Jungner YG. Principles and practice of mass screening for disease. Bol Oficina Sanit. 1968;65(4):281-393.WilsonJMJungnerYGPrinciples and practice of mass screening for disease1968654281393Search in Google Scholar