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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: drole torkar a. Front Pediatr. 2021 May 7;9:648939. doi: 10.3389/fped.2021.648939. eCollection 2021. Front Pediatr. 2021. PMID: 34026686 Free PMC article.
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.
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: drole torkar a. 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.
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: drole torkar a. Genes (Basel). 2022 Mar 15;13(3):517. doi: 10.3390/genes13030517. Genes (Basel). 2022. PMID: 35328070 Free PMC article.
14 results