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Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review.
Molk N, Bitenc M, Urlep D, Zerjav Tansek M, Bertok S, Trebusak Podkrajsek K, Sustar U, Kovac J, Battelino T, Debeljak M, Groselj U. Molk N, et al. Among authors: debeljak m. Front Med (Lausanne). 2023 Jun 13;10:1106441. doi: 10.3389/fmed.2023.1106441. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37384046 Free PMC article.
Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia.
Jensterle M, Janež A, Vipotnik Vesnaver T, Debeljak M, Breznik N, Trebušak Podkrajšek K, Herman R, Fliers E, Battelino T, Avbelj Stefanija M. Jensterle M, et al. Among authors: debeljak m. Front Endocrinol (Lausanne). 2023 Oct 30;14:1248231. doi: 10.3389/fendo.2023.1248231. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37964948 Free PMC article.
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: debeljak m. 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.
SARS-CoV-2 molecular epidemiology in Slovenia, January to September 2021.
Janezic S, Mahnic A, Kuhar U, Kovač J, Jenko Bizjan B, Koritnik T, Tesovnik T, Šket R, Krapež U, Slavec B, Malovrh T, Battelino T, Rupnik M, Zohar Cretnik T; NLZOH COVID-19 team; CISLD NGS team; Members of the NLZOH COVID-19 team Members of the CISLD NGS team, UMC Ljubljana. Janezic S, et al. Euro Surveill. 2023 Feb;28(8):2200451. doi: 10.2807/1560-7917.ES.2023.28.8.2200451. Euro Surveill. 2023. PMID: 36820641 Free PMC article.
118 results