Search Results - "Urh Groselj"

Universal Screening for Familial Hypercholesterolemia in Children by Klančar, Gašper, BSc, Grošelj, Urh, MD, Kovač, Jernej, PhD, Bratanič, Nevenka, MD, Bratina, Nataša, MD, Trebušak Podkrajšek, Katarina, PhD, Battelino, Tadej, MD

“…Abstract Background Individuals with familial hypercholesterolemia (FH) who are untreated have up to 100-fold elevated risk for cardiovascular complications…”
Get full text

Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review by Groselj, Urh, Kovac, Jernej, Sustar, Ursa, Mlinaric, Matej, Fras, Zlatko, Podkrajsek, Katarina Trebusak, Battelino, Tadej

“…Familial hypercholesterolemia (FH) is arguably the most common monogenic disorder in humans, but severely under-diagnosed. Individuals with untreated FH have…”
Get full text

High-Sensitivity C-Reactive Protein and Carotid Intima Media Thickness as Markers of Subclinical Inflammation and Atherosclerosis in Pediatric Patients with Hypercholesterolemia by Blinc, Lana, Mlinaric, Matej, Battelino, Tadej, Groselj, Urh

“…Hypercholesterolemia is a major cause of atherosclerosis development and premature cardiovascular disease (CVD). It leads to inflammation, which further…”
Get full text

Sex-Related Differences in Cardiovascular Disease Risk Profile in Children and Adolescents with Type 1 Diabetes by Smigoc Schweiger, Darja, Battelino, Tadej, Groselj, Urh

“…Cardiovascular disease (CVD) is the primary cause of higher and earlier morbidity and mortality in people with type 1 diabetes (T1D) compared to people without…”
Get full text

Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia by Stanimirovic, Dalibor, Murko, Eva, Battelino, Tadej, Groselj, Urh

“…According to rough estimates, there are approximately 150,000 rare disease patients in Slovenia (out of a total population of 2 million). Despite the absence…”
Get full text

Ethics of Vaccination in Childhood-A Framework Based on the Four Principles of Biomedical Ethics by Rus, Meta, Groselj, Urh

“…Although vaccination is recognised as the top public health achievement of the twentieth century, unequivocal consensus about its beneficence does not exist…”
Get full text

Next-Generation Sequencing in Newborn Screening: A Review of Current State by Remec, Ziga I., Trebusak Podkrajsek, Katarina, Repic Lampret, Barbka, Kovac, Jernej, Groselj, Urh, Tesovnik, Tine, Battelino, Tadej, Debeljak, Marusa

“…Newborn screening was first introduced at the beginning of the 1960s with the successful implementation of the first phenylketonuria screening programs. Early…”
Get full text

The first nationwide study on facing and solving ethical dilemmas among healthcare professionals in Slovenia by Grosek, Stefan, Kucan, Rok, Groselj, Jon, Orazem, Miha, Groselj, Urh, Erculj, Vanja, Lajovic, Jaro, Borovecki, Ana, Ivanc, Blaz

“…Background Healthcare professionals (HCPs), patients and families are often faced with ethical dilemmas. The role of healthcare ethics committees (HECs) is to…”
Get full text

Editorial: Rare dyslipidemias by Sadiq, Fouzia, Hegele, Robert A, Catapano, Alberico L, Groselj, Urh

Get full text

ESCAP statement on the care for children and adolescents with gender dysphoria: an urgent need for safeguarding clinical, scientific, and ethical standards by Drobnič Radobuljac, Maja, Grošelj, Urh, Kaltiala, Riittakerttu, Vermeiren, Robert, Crommen, Sofie, Kotsis, Konstantinos, Danese, Andrea, Hoekstra, Pieter J., Fegert, Jörg M.

Get full text

Fifty years of phenylketonuria newborn screening — A great success for many, but what about the rest? by Groselj, Urh, Tansek, Mojca Zerjav, Battelino, Tadej

“…Guthrie's landmark discovery and the subsequent implementation of the first newborn screening programs for phenylketonuria (PKU) and other inherited errors of…”
Get full text

Economic and social impacts of COVID-19 and public health measures: results from an anonymous online survey in Thailand, Malaysia, the UK, Italy and Slovenia by Osterrieder, Anne, Cuman, Giulia, Pan-Ngum, Wirichada, Cheah, Phaik Kin, Cheah, Phee-Kheng, Peerawaranun, Pimnara, Silan, Margherita, Orazem, Miha, Perkovic, Ksenija, Groselj, Urh, Schneiders, Mira Leonie, Poomchaichote, Tassawan, Waithira, Naomi, Asarath, Supa-at, Naemiratch, Bhensri, Ruangkajorn, Supanat, Skof, Lenart, Kulpijit, Natinee, Mackworth-Young, Constance R S, Ongkili, Darlene, Chanviriyavuth, Rita, Mukaka, Mavuto, Cheah, Phaik Yeong

“…ObjectivesTo understand the impact of COVID-19 and public health measures on different social groups, we conducted a mixed-methods study in five countries…”
Get full text

Carotid Intima-Media Thickness in Healthy Children and Adolescents: Normative Data and Systematic Literature Review by Drole Torkar, Ana, Plesnik, Emil, Groselj, Urh, Battelino, Tadej, Kotnik, Primoz

“…Early identification of children at risk of atherosclerosis is of paramount importance for implementing primary preventive measures addressing vascular health…”
Get full text

Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach by Stanimirovic, Dalibor, Murko, Eva, Battelino, Tadej, Groselj, Urh, Zerjav Tansek, Mojca

“…Rare diseases (RDs), with distinctive and complex features, pose a serious public health concern and represent a considerable challenge for the Slovenian…”
Get full text

Comparison of Tandem Mass Spectrometry and the Fluorometric Method-Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria by Perko, Dasa, Groselj, Urh, Cuk, Vanja, Iztok Remec, Ziga, Zerjav Tansek, Mojca, Drole Torkar, Ana, Krhin, Blaz, Bicek, Ajda, Oblak, Adrijana, Battelino, Tadej, Repic Lampret, Barbka

“…Phenylketonuria (PKU) was the first disease to be identified by the newborn screening (NBS) program. Currently, there are various methods for determining…”
Get full text

A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review by Sustar, Ursa, Groselj, Urh, Khan, Sabeen Abid, Shafi, Saeed, Khan, Iqbal, Kovac, Jernej, Bizjan, Barbara Jenko, Battelino, Tadej, Sadiq, Fouzia

“…Background: Due to nonspecific symptoms, rare dyslipidaemias are frequently misdiagnosed, overlooked, and undertreated, leading to increased risk for severe…”
Get full text

Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review by Gregoric, Nadan, Groselj, Urh, Bratina, Natasa, Debeljak, Marusa, Zerjav Tansek, Mojca, Suput Omladic, Jasna, Kovac, Jernej, Battelino, Tadej, Kotnik, Primoz, Avbelj Stefanija, Magdalena

“…Proopiomelanocortin (POMC) deficiency is an extremely rare inherited autosomal recessive disorder characterized by severe obesity, adrenal insufficiency, skin…”
Get full text

Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program by Sustar, Ursa, Groselj, Urh, Trebusak Podkrajsek, Katarina, Mlinaric, Matej, Kovac, Jernej, Thaler, Martin, Drole Torkar, Ana, Skarlovnik, Ajda, Battelino, Tadej, Hovnik, Tinka

“…Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive lysosomal storage disorder, caused by homozygous or compound heterozygous pathogenic…”
Get full text

Case report: The success of empagliflozin therapy for glycogen storage disease type 1b by Klinc, Ana, Groselj, Urh, Mlinaric, Matej, Homan, Matjaz, Markelj, Gasper, Mezek Novak, Ajda, Sirca Campa, Andreja, Sikonja, Jaka, Battelino, Tadej, Zerjav Tansek, Mojca, Drole Torkar, Ana

“…Glycogen storage disease type 1b (GSD-1b) is characterized by neutropenia and neutrophil dysfunction generated by the accumulation of…”
Get full text

Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review by Ain, Quratul, Cevc, Matija, Marusic, Tatiana, Sikonja, Jaka, Sadiq, Fouzia, Sustar, Ursa, Mlinaric, Matej, Kovac, Jernej, Batool, Hijab, Khan, Mohammad Iqbal, Trebusak Podkrajsek, Katarina, Bizjan, Barbara Jenko, Battelino, Tadej, Fras, Zlatko, Ajmal, Muhammad, Groselj, Urh

“…Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene…”
Get full text