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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: torkar ad. 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.
Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study.
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (EAS FHSC). European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (EAS FHSC). Lancet Diabetes Endocrinol. 2024 Nov;12(11):811-823. doi: 10.1016/S2213-8587(24)00221-3. Epub 2024 Oct 4. Lancet Diabetes Endocrinol. 2024. PMID: 39374602 Free article.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tanšek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB. Grünert SC, et al. Among authors: torkar ad. Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3. Genet Med. 2022. PMID: 35503103 Free 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: torkar ad. 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.
Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set.
Overduin RJ, Haijer-Schreuder AB, Withaar FK, Grünert SC, LaFreniere J, Contreras EL, Temkin GW, Stone-Schneider B, Vanneste F, Dekker H, Fokkert-Wilts MJ, van der Klauw MM, Weinstein DA, Rossi A, Derks TGJ; GSD Value Consortium. Overduin RJ, et al. Genet Med. 2025 Sep 23;27(12):101589. doi: 10.1016/j.gim.2025.101589. Online ahead of print. Genet Med. 2025. PMID: 41014099 Free article.