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Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.
Štajer K, Kovač N, Šikonja J, Mlinarič M, Bertok S, Brecelj J, Debeljak M, Kovač J, Markelj G, Neubauer D, Rus R, Žerjav Tanšek M, Drole Torkar A, Zver A, Battelino T, Jiménez Torres R, Grošelj U. Štajer K, et al. Among authors: sikonja j. Mol Genet Metab Rep. 2023 Jun 19;36:100986. doi: 10.1016/j.ymgmr.2023.100986. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37670898 Free PMC article.
Mapping of familial hypercholesterolemia and dyslipidemias basic management infrastructure in Pakistan: a cross-sectional study.
Sadiq F, Shafi S, Sikonja J, Khan M, Ain Q, Khan MI, Rehman H, Mlinaric M, Gidding SS, Groselj U; PAKISTAN Familial Hypercholesterolemia Collaborators. Sadiq F, et al. Among authors: sikonja j. Lancet Reg Health Southeast Asia. 2023 Feb 20;12:100163. doi: 10.1016/j.lansea.2023.100163. eCollection 2023 May. Lancet Reg Health Southeast Asia. 2023. PMID: 37384054 Free PMC article.
The time is now: Achieving FH paediatric screening across Europe - The Prague Declaration.
Bedlington N, Abifadel M, Beger B, Bourbon M, Bueno H, Ceska R, Cillíková K, Cimická Z, Daccord M, de Beaufort C, Dharmayat KI, Ference BA, Freiberger T, Geanta M, Gidding SS, Grošelj U, Halle M, Johnson N, Novakovic T, Májek O, Pallidis A, Peretti N, Pinto FJ, Ray KK, Rees B, Reeve J, Reiner Ž, Santos RD, Schunkert H, Šikonja J, Sokolovic M, Tokgözoglu L, Vrablík M, Wiegman A, Gutiérrez-Ibarluzea I. Bedlington N, et al. Among authors: sikonja j. GMS Health Innov Technol. 2022 Sep 30;16:Doc04. doi: 10.3205/hta000136. eCollection 2022. GMS Health Innov Technol. 2022. PMID: 36311985 Free PMC article. Review.
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
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.
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