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Page 1
Newborn Screening in a Pandemic-Lessons Learned.
Mlinaric M, Bonham JR, Kožich V, Kölker S, Majek O, Battelino T, Torkar AD, Koracin V, Perko D, Remec ZI, Lampret BR, Scarpa M, Schielen PCJI, Zetterström RH, Groselj U. Mlinaric M, et al. Among authors: remec zi. Int J Neonatal Screen. 2023 Apr 11;9(2):21. doi: 10.3390/ijns9020021. Int J Neonatal Screen. 2023. PMID: 37092515 Free PMC article. Review.
Global impact of COVID-19 on newborn screening programmes.
Koracin V, Loeber JG, Mlinaric M, Battelino T, Bonham JR, Groselj U; COVID-NBS ISNS global network. Koracin V, et al. BMJ Glob Health. 2022 Mar;7(3):e007780. doi: 10.1136/bmjgh-2021-007780. BMJ Glob Health. 2022. PMID: 35236661 Free PMC article.
Current Status of Newborn Screening in Southeastern Europe.
Koracin V, Mlinaric M, Baric I, Brincat I, Djordjevic M, Drole Torkar A, Fumic K, Kocova M, Milenkovic T, Moldovanu F, Mulliqi Kotori V, Nanu MI, Remec ZI, Repic Lampret B, Platis D, Savov A, Samardzic M, Suzic B, Szatmari I, Toromanovic A, Zerjav Tansek M, Battelino T, Groselj U. Koracin V, et al. Among authors: remec zi. Front Pediatr. 2021 May 7;9:648939. doi: 10.3389/fped.2021.648939. eCollection 2021. Front Pediatr. 2021. PMID: 34026686 Free PMC article.
Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program.
Perko D, Repic Lampret B, Remec ZI, Zerjav Tansek M, Drole Torkar A, Krhin B, Bicek A, Oblak A, Battelino T, Groselj U. Perko D, et al. Among authors: remec zi. Genes (Basel). 2022 Mar 15;13(3):517. doi: 10.3390/genes13030517. Genes (Basel). 2022. PMID: 35328070 Free PMC article.
Comparison of Tandem Mass Spectrometry and the Fluorometric Method-Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria.
Perko D, Groselj U, Cuk V, Iztok Remec Z, Zerjav Tansek M, Drole Torkar A, Krhin B, Bicek A, Oblak A, Battelino T, Repic Lampret B. Perko D, et al. Among authors: iztok remec z. Int J Mol Sci. 2023 Jan 27;24(3):2487. doi: 10.3390/ijms24032487. Int J Mol Sci. 2023. PMID: 36768810 Free PMC article.
Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant.
Sikonja J, Brecelj J, Zerjav Tansek M, Repic Lampret B, Drole Torkar A, Klemencic S, Lipovec N, Stefanova Kralj V, Bertok S, Kovac J, Faganel Kotnik B, Tesarova M, Remec ZI, Debeljak M, Battelino T, Groselj U. Sikonja J, et al. Among authors: remec zi. Mol Genet Metab Rep. 2021 Dec 16;30:100836. doi: 10.1016/j.ymgmr.2021.100836. eCollection 2022 Mar. Mol Genet Metab Rep. 2021. PMID: 35242570 Free PMC article.
Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing.
Lampret BR, Remec ŽI, Torkar AD, Tanšek MŽ, Šmon A, Koračin V, Čuk V, Perko D, Ulaga B, Jelovšek AM, Debeljak M, Kovač J, Battelino T, Grošelj U. Lampret BR, et al. Among authors: remec zi. Zdr Varst. 2020 Oct 18;59(4):256-263. doi: 10.2478/sjph-2020-0032. eCollection 2020 Dec. Zdr Varst. 2020. PMID: 33133282 Free PMC article.