Št. zadetkov: 19
Pregledni znanstveni članek
Oznake:
familial hypercholesterolemia;polygenic hypercholesterolemia;inflammation;atherosclerosis;carotid intima media thickness;cIMT;C-reactive protein;hsCRP;
Hypercholesterolemia is a major cause of atherosclerosis development and premature cardiovascular disease (CVD). It leads to inflammation, which further accelerates atherosclerosis progression. Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by elevated serum LDL-c ...
Leto:
2020
Vir:
Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake:
autism spectrum disorders;trace elements;ventricular indexes;
Autism spectrum disorder (ASD) belongs to the group of complex developmental disorders. Novel studies have suggested that genetic and environmental factors equally affect the risk of ASD. Identification of environmental factors involved in the development of ASD is therefore crucial for a better und ...
Leto:
2024
Vir:
Fakulteta za farmacijo (UL FFA)
Jan Kafol,
Mia Becker,
Barbara Čugalj Kern,
Jaka Šikonja,
Matej Mlinarič,
Katarina Sedej,
Matej Kafol,
Ana Drole Torkar,
Jernej Kovač,
Tadej Battelino,
Urh Grošelj
Izvirni znanstveni članek
Oznake:
sex differences;prepubertal children;total cholesterol;low-density lipoprotein cholesterol;familial hypercholesterolemia;
Background and aims: Sex differences in cholesterol levels are well documented in adults and adolescents, but limited data exist for prepubertal children. This study aimed to evaluate innate sex differences in total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels among prepub ...
Leto:
2025
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Urh Grošelj,
Jan Kafol,
Neža Molk,
Katarina Sedej,
Matej Mlinarič,
Jaka Šikonja,
Urša Šuštar,
Barbara Čugalj Kern,
Jernej Kovač,
Tadej Battelino,
Maruša Debeljak,
Maruša Debeljak
Izvirni znanstveni članek
Oznake:
APOB;children;hypocholesterolemia;next-generation sequencing;prevalence;
Background and aims: In contrast to extensively studied hypercholesterolemia, knowledge of hypocholesterolemia is limited. This study aims to assess the prevalence, clinical characteristics, and genetics of children and adolescents with hypocholesterolemia. Methods: This national prospective cross-s ...
Leto:
2025
Vir:
Medicinska fakulteta (UL MF)
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)
Urh Grošelj,
Jan Kafol,
Jaka Šikonja,
Matej Mlinarič,
Robert Šket,
Žiga Iztok Remec,
Jernej Kovač,
Ana Drole Torkar,
Jasna Šuput,
Barbka Repič-Lampret,
Tadej Battelino,
Primož Kotnik
Izvirni znanstveni članek
Oznake:
insulin resistance;oral glucose tolerance test;OGTT;metabolic complications;screening;children;adolescents;obesity;
Background and aims: Early detection of insulin resistance (IR) and obesity-related complications is crucial for preventing type 2 diabetes. This study aimed to identify dynamic metabolic biomarkers for more precise early detection of IR and metabolic abnormalities. Methods: This cross-sectional coh ...
Leto:
2025
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Quratul Ain,
Matija Cevc,
Tatiana Marusic,
Jaka Šikonja,
Fouzia Sadiq,
Urša Šuštar,
Matej Mlinarič,
Jernej Kovač,
Hijab Batool,
Mohammad Iqbal Khan,
Katarina Trebušak Podkrajšek,
Barbara Jenko,
Tadej Battelino,
Zlatko Fras,
Urh Grošelj
Izvirni znanstveni članek
Oznake:
LPL;case series;hypertriglyceridemia;lipoprotein lipase;lipoprotein lipase deficiency;pancreatitis;
Introduction: Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have a range of symptoms, while homozygous LPL deficiency presents wi ...
Leto:
2024
Vir:
Medicinska fakulteta (UL MF)
Domen Trampuž,
Peter C. J. I. Schielen,
Rolf H. Zetterström,
Maurizio Scarpa,
François Feillet,
Viktor Kožich,
Trine Tangeraas,
Ana Drole Torkar,
Matej Mlinarič,
Daša Perko,
Žiga Iztok Remec,
Barbka Repič-Lampret,
Tadej Battelino,
Urh Grošelj
Izvirni znanstveni članek
Oznake:
phenylketonuria;newborn;neonatal;screening;international;survey;laboratory;methods;cut-off;
ewborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practices still vary widely across countries and centers. ...
Leto:
2025
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
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)
Urh Grošelj,
Marko Kavčič,
Ana Drole Torkar,
Jan Kafol,
Duško Lainšček,
Roman Jerala,
Matjaž Sever,
Samo Zver,
Gregor Serša,
Maja Čemažar,
Primož Strojan,
Aleš Grošelj,
Mojca Žerjav-Tanšek,
Špela Križanec,
Simona Ivančan,
Tomaž Prelog,
David Gosar,
Jasna Oražem,
Matej Mlinarič,
Sara Bertok,
Jernej Kovač,
Jana Kodrič,
Saba Battelino,
Marko Pokorn,
Alojz Ihan,
Janez Jazbec,
Tadej Battelino,
Damjan Osredkar
Pregledni znanstveni članek
Oznake:
gene therapy;rare genetic diseases;Slovenia;CAR-T cells;cancer;immune gene therapy;
Gene therapy has transitioned from a long-awaited promise to a clinical reality, offering transformative treatments for rare congenital diseases and certain cancers, which have a significant impact on patients’ lives. Current approaches focus on gene replacement therapy, either in vivo or ex vivo, m ...
Leto:
2025
Vir:
Kemijski inštitut (KI)