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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: zerjav tansek 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.
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. Among authors: zerjav tansek m. 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.
Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review.
Gregoric N, Groselj U, Bratina N, Debeljak M, Zerjav Tansek M, Suput Omladic J, Kovac J, Battelino T, Kotnik P, Avbelj Stefanija M. Gregoric N, et al. Among authors: zerjav tansek m. Front Endocrinol (Lausanne). 2021 Jun 9;12:689387. doi: 10.3389/fendo.2021.689387. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34177811 Free PMC article.
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: zerjav tansek 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.
40 results