High-Sensitivity C-Reactive Protein and Carotid Intima Media Thickness as Markers of Subclinical Inflammation and Atherosclerosis in Pediatric Patients with Hypercholesterolemia

by Lana Blinc, Matej Mlinaric, Tadej Battelino, Urh Groselj
Published 2020-11-01

Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)—Long-Term Follow-Up of a Patient and Literature Review

by Matej Mlinaric, Nevenka Bratanic, Vlasta Dragos, Ajda Skarlovnik, Matija Cevc, Tadej Battelino, Tadej Battelino, Urh Groselj, Urh Groselj
Published 2020-10-01

Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity

by Robert Šket, Primož Kotnik, Primož Kotnik, Barbara Jenko Bizjan, Valentina Kocen, Matej Mlinarič, Tine Tesovnik, Maruša Debeljak, Maruša Debeljak, Tadej Battelino, Tadej Battelino, Jernej Kovač, Jernej Kovač
Published 2022-04-01

Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series

by Tatiana Marusic, Ursa Sustar, Fouzia Sadiq, Vjosa Kotori, Matej Mlinaric, Jernej Kovac, Saeed Shafi, Iqbal Khan, Iqbal Khan, Matija Cevc, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Tadej Battelino, Tadej Battelino, Urh Groselj, Urh Groselj
Published 2020-09-01

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

by 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
Published 2023-09-01

Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program

by Ursa Sustar, Ursa Sustar, Urh Groselj, Urh Groselj, Urh Groselj, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino, Tadej Battelino, Tinka Hovnik, Tinka Hovnik
Published 2022-07-01

Newborn Screening in a Pandemic—Lessons Learned

by Matej Mlinaric, James R. Bonham, Viktor Kožich, Stefan Kölker, Ondrej Majek, Tadej Battelino, Ana Drole Torkar, Vanesa Koracin, Dasa Perko, Ziga Iztok Remec, Barbka Repic Lampret, Maurizio Scarpa, Peter C. J. I. Schielen, Rolf H. Zetterström, Urh Groselj
Published 2023-04-01

Case report: The success of empagliflozin therapy for glycogen storage disease type 1b

by Ana Klinc, Urh Groselj, Urh Groselj, Matej Mlinaric, Matjaz Homan, Matjaz Homan, Gasper Markelj, Ajda Mezek Novak, Andreja Sirca Campa, Jaka Sikonja, Jaka Sikonja, Tadej Battelino, Tadej Battelino, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Ana Drole Torkar, Ana Drole Torkar
Published 2024-06-01

Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review

by Quratul Ain, Quratul Ain, Matija Cevc, Tatiana Marusic, Jaka Sikonja, Jaka Sikonja, Fouzia Sadiq, Ursa Sustar, Matej Mlinaric, Jernej Kovac, Hijab Batool, Mohammad Iqbal Khan, Mohammad Iqbal Khan, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Barbara Jenko Bizjan, Tadej Battelino, Tadej Battelino, Zlatko Fras, Zlatko Fras, Muhammad Ajmal, Urh Groselj, Urh Groselj
Published 2024-06-01

Current Status of Newborn Screening in Southeastern Europe

by Vanesa Koracin, Matej Mlinaric, Ivo Baric, Ian Brincat, Maja Djordjevic, Ana Drole Torkar, Ana Drole Torkar, Ksenija Fumic, Mirjana Kocova, Tatjana Milenkovic, Florentina Moldovanu, Vjosa Mulliqi Kotori, Michaela Iuliana Nanu, Ziga Iztok Remec, Barbka Repic Lampret, Barbka Repic Lampret, Dimitrios Platis, Alexey Savov, Mira Samardzic, Biljana Suzic, Ildiko Szatmari, Alma Toromanovic, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Tadej Battelino, Tadej Battelino, Urh Groselj, Urh Groselj
Published 2021-05-01