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Št. zadetkov: 14
Pomen polavtomatske ultrazvočne opredelitve debeline intime-medije karotidne arterije za oceno žilnega zdravja pri otrocih in mladostnikih
Ana Drole Torkar, Primož Kotnik
Doktorska disertacija
Oznake: kronično bolni otroci;primarna preventiva;karotidne arterije;tunika intima;tunika media;debelina;ultrazvočne preiskave;
Background. Early identification of children at risk of atherosclerosis (AS) is paramount for implementing primary preventive measures addressing vascular health. This dissertation presents the background of the pathophysiology of AS development in children, with the cohorts of children carrying ris ...
Leto: 2023 Vir: Medicinska fakulteta (UL MF)
Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation
Neli Bizjak, Mojca Žerjav-Tanšek, Magdalena Avbelj, Barbka Repič-Lampret, Ajda Mezek, Ana Drole Torkar, Tadej Battelino, Urh Grošelj
Kratki znanstveni prispevek
Oznake: 3-MGA-I;3-methylglutaconic aciduria type 1;precocious puberty;AUH gene;GnRH agonist;triptorelin;
3-methylglutaconic aciduria type 1 (3-MGA-I) (MIM ID #250950) is an ultra-rare, autosomal recessive organic aciduria, resulting from mutated AUH gene, leading to the deficient 3-methylglutaconyl-CoA hydratase (3-MGH). Only around 40 cases are previously reported, caused by a spectrum of 10 mutations ...
Leto: 2020 Vir: Medicinska fakulteta (UL MF)
Sudden death of a four-day-old newborn due to mitochondrial trifunctional protein/long-chain 3-hydroxyacyl-coa dehydrogenase deficiencies and a systematic literature review of early deaths of neonates with fatty acid oxidation disorders
Ana Drole Torkar, Ana Drole Torkar, Ana Klinc, Žiga Iztok Remec, Branislava Ranković, Klara Bartolj, Sara Bertok, Sara Colja, Vanja Čuk, Maruša Debeljak, Eva Kozjek, Barbka Repič-Lampret, Matej Mlinarič, Tinka Mohar Hajnšek, Daša Perko, Katarina Štajer, Tine Tesovnik, Domen Trampuž, Blanka Ulaga, Jernej Kovač, Tadej Battelino, Mojca Žerjav-Tanšek, Urh Grošelj, Urh Grošelj
Pregledni znanstveni članek
Oznake: FAOD;LCHAD deficiency;LCHADD;MTP deficiency;MTPD;NBS;fatty acid oxidation disorder;newborn;newborn screening;sudden infant death;
Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies have been a part of the Slovenian newborn screening (NBS) program since 2018. We describe a case of early lethal presentation of MTPD/LCHADD in a term newborn. The girl was born after an une ...
Leto: 2025 Vir: Medicinska fakulteta (UL MF)
Sex differences in cholesterol levels among prepubertal children
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
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)
Enhanced oral glucose tolerance test for early detection of insulin resistance and metabolic complications in children with obesity
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
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome)
Mojca Žerjav-Tanšek, Jana Kodrič, Simona Primožič, Jaap Jan Boelens, Peter M. van Hasselt, Ana Drole Torkar, Maja Dorič, Alenka Koren, Simona Avčin, Tadej Battelino, Urh Grošelj
Pregledni znanstveni članek
Oznake: MPS;mukopolisaharidoza tipa 2;Hunterjev sindrom;transplantacija matičnih celic;encimska nadomestna terapija;redke bolezni;
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, X-linked recessive multisystem lysosomal storage disease due to iduronate-2-sulfatase enzyme deficiency. We presented three unrelated Slovenian patients with the severe form of MPS II that received three different management approach ...
Leto: 2021 Vir: Medicinska fakulteta (UL MF)
Comparison of tandem Mass spectrometry and the fluorometric method
Daša Perko, Daša Perko, Urh Grošelj, Vanja Čuk, Žiga Iztok Remec, Mojca Žerjav-Tanšek, Ana Drole Torkar, Blaž Krhin, Ajda Biček, Adrijana Oblak, Tadej Battelino, Barbka Repič-Lampret
Izvirni znanstveni članek
Oznake: tandem mass spectrometry;MS/MS;fluorometric method;FM;comparison;phenylalanine;Phe;phenylketonuria;PKU;newborn screening;NBS;false positive;recall rate;
Phenylketonuria (PKU) was the first disease to be identified by the newborn screening (NBS) program. Currently, there are various methods for determining phenylalanine (Phe) values, with tandem mass spectrometry (MS/MS) being the most widely used method worldwide. We aimed to compare the MS/MS metho ...
Leto: 2023 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
International survey on Phenylketonuria newborn screening
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
Št. zadetkov: 14
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