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Št. zadetkov: 8
Razlogi za neuporabo zemljiškega dolga v slovenski bančni praksi
Mojca Šikonja, Jaka Cepec
Diplomsko delo
Oznake: Slovenija;bančništvo;bančno poslovanje;krediti;zavarovanje;hipoteke;zemljišča;dolgovi;
Razlogi za neuporabo zemljiškega dolga v slovenski bančni praksi
Leto: 2011 Vir: Ekonomska fakulteta (UL EF)
Semaglutide improved sperm morphology in obese men with type 2 diabetes mellitus and functional hypogonadism
Nadan Gregorič, Jaka Šikonja, Andrej Janež, Mojca Jensterle Sever, Mojca Jensterle Sever
Izvirni znanstveni članek
Oznake: funkcionalni hipogonadizem;debelost;semaglutid;functional hypogonadism;obesity;semaglutide;
Aims To compare the effects of semaglutide and testosterone replacement therapy (TRT) on semen quality and parameters of functional hypogonadism (FH) in men with type 2 diabetes mellitus and obesity. Materials and Methods We designed a randomised open-label trial in 25 men with type 2 diabetes (aged ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Case report
Ana Klinc, Urh Grošelj, Matej Mlinarič, Matjaž Homan, Gašper Markelj, Ajda Mezek, Andreja Širca-Čampa, Jaka Šikonja, Tadej Battelino, Mojca Žerjav-Tanšek, Ana Drole Torkar
Kratki znanstveni prispevek
Oznake: glycogen storage disease type 1B;GSD-1b;empagliflozin;SGLT2 inhibitor;neutropenia;
Glycogen storage disease type 1b (GSD-1b) is characterized by neutropenia and neutrophil dysfunction generated by the accumulation of 1,5-anhydroglucitol-6-phosphate in neutrophils. Sodium-glucose co-transporter 2 inhibitors, such as empagliflozin, facilitate the removal of this toxic metabolite and ...
Leto: 2024 Vir: Medicinska fakulteta (UL MF)
ǂThe ǂrole of the MTUS1 gene in the development of left ventricular noncompaction cardiomyopathy
Tevž Gorjanc, Jaka Šikonja, Ana Drole Torkar, Mojca Žerjav-Tanšek, Jernej Kovač, Sara Bertok, Maruša Debeljak, Zvezdana Dolenc-Stražar, Marija Meznarič, Jernej Mlakar, Mirko Topalović, Gorazd Mlakar, Tadej Battelino, Urh Grošelj
Kratki znanstveni prispevek
Oznake: left ventricular noncompaction cardiomyopathy;microtubule-associated scaffold protein 1 (MTUS1);whole-genome sequencing;
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Branched-chain amino acid transferase 2 (BCAT2) deficiency
Maja Filipič, Žiga Iztok Remec, Ana Drole Torkar, Nataša Šuštar, Vanja Čuk, Chiara Rodaro, Maruša Debeljak, Matej Mlinarič, Jaka Šikonja, Vesna Bančič, Primož Kotnik, Tadej Battelino, Mojca Žerjav-Tanšek, Urh Grošelj, Barbka Repič-Lampret
Izvirni znanstveni članek
Oznake: BCAT2;branched-chain amino acids;antihistamine branched-chain amino acid transaminase;hypervalinemia;hyperleucine-isoleucinemia;insulin resistance;white matter abnormalities;
Background: Branched-chain amino acid transaminase 2 (BCAT2) deficiency is an autosomal recessive disorder that impairs branched-chain amino acid (BCAA) catabolism. Its clinical and metabolic features remain poorly understood due to limited reports in the literature. Methods: We report three novel c ...
Leto: 2026 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – a novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
Jaka Šikonja, Jernej Brecelj, Mojca Žerjav-Tanšek, Barbka Repič-Lampret, Ana Drole Torkar, Simona Primožič, Neža Lipovec, Valentina Stefanova, Sara Bertok, Jernej Kovač, Barbara Faganel, Markéta Tesařová, Žiga Iztok Remec, Maruša Debeljak, Tadej Battelino, Urh Grošelj
Izvirni znanstveni članek
Oznake: pediatrija;tirozenemija;presejalno testiranje;tyrosinemia;fumarylacetoacetate hydrolase;nitisinone;dried blood spot;succinylacetone;intronic variant;
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment. We presented the follow up of the only two Slovenian patients diagnosed with H ...
Leto: 2022 Vir: Medicinska fakulteta (UL MF)
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav-Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj
Pregledni znanstveni članek
Oznake: Phosphoribosylpyrophosphate synthetase 1;PRPS1;PRS-I super-activity;PRS-I deficiency;Arts syndrome;X-linked Charcot-Marie-Tooth neuropathy type 5;
Phosphoribosyl pyrophosphate synthetase 1 (PRS–I) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked nonsyndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type ...
Leto: 2023 Vir: Medicinska fakulteta (UL MF)
Universal screening for familial hypercholesterolemia in preschool children and their families in Slovenia (FH-FAMILIES)
Mia Becker, Bernarda Vogrin, Jan Kafol, Barbara Čugalj Kern, Urh Grošelj, Jernej Završnik, Matej Mlinarič, Ana Drole Torkar, Jaka Šikonja, Jernej Kovač, Tadej Battelino, Zlatko Fras, Matija Cevc, Borut Jug, Barbara Krevel, Tevž Gorjanc, Klara Zabkar, Aljaz Jamnik, Maruša Debeljak, Ana Grom, Tamara Grgic, Miha Švarc, Maja Filipič, Mineja Leban, Marija Kjoseva Bakarova, Mateja Šnajder, Alenka Koren, Mojca Mir Toplak, Mojca Ivankovič Kacjan, Mario Kulaš, Benjamina Trtnik, Saša Korez, Nina Hebar, Bernarda Vogel, Vesna Amon Prodnik, Lidija Pretnar, Janja Schweiger Nemanič
Izvirni znanstveni članek
Oznake: hypercholesterolemia;universal screening;preschoolers;total cholesterol;genetic testing;
Familial hypercholesterolemia (FH) is the most common metabolic disease, with prevalence estimated between 1:250 and 1:300. The affected individuals have a significantly higher risk for developing atherosclerosis and cardiovascular disease (CVD) compared to non-affected individuals. Early CVD can be ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 8
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