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Page 1
Towards Achieving Equity and Innovation in Newborn Screening across Europe.
Sikonja J, Groselj U, Scarpa M, la Marca G, Cheillan D, Kölker S, Zetterström RH, Kožich V, Le Cam Y, Gumus G, Bottarelli V, van der Burg M, Dekkers E, Battelino T, Prevot J, Schielen PCJI, Bonham JR. Sikonja J, et al. Int J Neonatal Screen. 2022 May 6;8(2):31. doi: 10.3390/ijns8020031. Int J Neonatal Screen. 2022. PMID: 35645285 Free PMC article. Review.
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. 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.
Paediatric familial hypercholesterolaemia screening in Europe: public policy background and recommendations.
Gidding SS, Wiegman A, Groselj U, Freiberger T, Peretti N, Dharmayat KI, Daccord M, Bedlington N, Sikonja J, Ray KK, Santos RD, Halle M, Tokgözoğlu L, Gutiérrez-Ibarluzea I, Pinto FJ, Geanta M. Gidding SS, et al. Among authors: sikonja j. Eur J Prev Cardiol. 2022 Dec 21;29(18):2301-2311. doi: 10.1093/eurjpc/zwac200. Eur J Prev Cardiol. 2022. PMID: 36059237
Osilodrostat for Cushing Disease and Its Role in Pediatrics.
Groselj U, Sikonja J, Battelino T. Groselj U, et al. Among authors: sikonja j. Horm Res Paediatr. 2023;96(6):573-580. doi: 10.1159/000522054. Epub 2022 Jan 19. Horm Res Paediatr. 2023. PMID: 35045421 Free article. Review.
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.
Krasovec T, Sikonja J, Zerjav Tansek M, Debeljak M, Ilovar S, Trebusak Podkrajsek K, Bertok S, Tesovnik T, Kovac J, Suput Omladic J, Hartmann MF, Wudy SA, Avbelj Stefanija M, Battelino T, Kotnik P, Groselj U. Krasovec T, et al. Among authors: sikonja j. Genes (Basel). 2022 Apr 20;13(5):717. doi: 10.3390/genes13050717. Genes (Basel). 2022. PMID: 35627102 Free PMC article.
VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review.
Kafol J, Gnidovec Strazisar B, Drole Torkar A, Homan M, Bertok S, Mlinaric M, Sikonja J, Kovač J, Perkovic Benedik M, Kersnik Levart T, Zerjav Tansek M, Praprotnik M, Battelino T, Debeljak M, Groselj U. Kafol J, et al. Among authors: sikonja j. Orphanet J Rare Dis. 2024 Dec 30;19(1):496. doi: 10.1186/s13023-024-03486-2. Orphanet J Rare Dis. 2024. PMID: 39736737 Free PMC article.
21 results