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Page 1
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: tansek mz. 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: tansek mz. 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.
Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures.
Strajnar A, Tansek MZ, Podkrajsek KT, Battelino T, Groselj U. Strajnar A, et al. Among authors: tansek mz. Balkan J Med Genet. 2018 Oct 29;21(1):77-81. doi: 10.2478/bjmg-2018-0014. eCollection 2018 Jun. Balkan J Med Genet. 2018. PMID: 30425915 Free PMC article.
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Lampret BR, Murko S, Debeljak M, Tansek MZ, Fister P, Battelino T. Lampret BR, et al. Among authors: tansek mz. Biochem Med (Zagreb). 2015 Jun 5;25(2):279-84. doi: 10.11613/BM.2015.029. eCollection 2015. Biochem Med (Zagreb). 2015. PMID: 26110041 Free PMC article.
21 results