Urh Groselj
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Explore the profile of Urh Groselj including associated specialties, affiliations and a list of published articles.
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85
Citations
953
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Recent Articles
1.
Gorjanc T, Sikonja J, Drole Torkar A, Zerjav Tansek M, Kovac J, Bertok S, et al.
Genes (Basel)
. 2025 Feb;
16(2).
PMID: 40004439
Background/objectives: The microtubule-associated scaffold protein 1 () gene affects the microtubule stability and cell polarity in the heart and could thus lead to the development of left ventricular noncompaction (LVNC)....
2.
Nawaz A, Khan M, Ain Q, Amjad M, Sikonja J, Batool H, et al.
Glob Heart
. 2025 Feb;
20(1):16.
PMID: 39991590
Background And Aims: Dyslipidemia is the major risk factor for atherosclerotic cardiovascular disease (ASCVD); therefore, its early diagnosis and treatment is necessary. While previous studies in Pakistan focused on general...
3.
Drole Torkar A, Klinc A, Remec Z, Rankovic B, Bartolj K, Bertok S, et al.
Int J Neonatal Screen
. 2025 Feb;
11(1).
PMID: 39982343
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...
4.
Ain Q, Sikonja J, Sadiq F, Shafi S, Kafol J, Gorjanc T, et al.
Atherosclerosis
. 2025 Feb;
402:119118.
PMID: 39903948
Background And Aims: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth, significantly increasing the risk of premature cardiac events and mortality....
5.
Elshorbagy A, Vallejo-Vaz A, Barkas F, Lyons A, Stevens C, Dharmayat K, et al.
Eur Heart J
. 2025 Jan;
PMID: 39801189
Background And Aims: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and...
6.
Kafol J, Strazisar B, Drole Torkar A, Homan M, Bertok S, Mlinaric M, et al.
Orphanet J Rare Dis
. 2024 Dec;
19(1):496.
PMID: 39736737
Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor. Results: We present two related patients from...
7.
Groselj U, Kafol J, Molk N, Sedej K, Mlinaric M, Sikonja J, et al.
Atherosclerosis
. 2024 Nov;
400:119065.
PMID: 39591895
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...
8.
Klinc A, Groselj U, Mlinaric M, Homan M, Markelj G, Mezek Novak A, et al.
Front Endocrinol (Lausanne)
. 2024 Jun;
15:1365700.
PMID: 38919482
Introduction: 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...
9.
Ain Q, Cevc M, Marusic T, Sikonja J, Sadiq F, Sustar U, et al.
Front Endocrinol (Lausanne)
. 2024 Jun;
15:1387419.
PMID: 38911039
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...
10.
Drobnic Radobuljac M, Groselj U, Kaltiala R, Vermeiren R, Crommen S, Kotsis K, et al.
Eur Child Adolesc Psychiatry
. 2024 Apr;
33(6):2011-2016.
PMID: 38678135
No abstract available.