Nacionalni portal odprte znanosti

Farmakogenetika protiepileptičnih zdravil pri otrocih in mladostnikih z epilepsijo

Sara Bertok, Katarina Trebušak Podkrajšek, Zvonka Rener-Primec, Mojca Kržan, Zvezdan Pirtošek, Borut Božič

Doktorska disertacija

Oznake: genotip;polimorfizmi;farmakogenetika;Farmacija;Farmakogenetika;Genetske variante;Presnova;Protiepileptična zdravila;Genetski označevalci;Bolezni živčevja;Epilepsija;Zdravljenje;Otroci;

Uvod in namen dela: Cilj zdravljenja epilepsije je popolna kontrola napadov in omejitev pojava neželenih učinkov, kar je pri otrocih in mladostnikih, kjer je zdravljenje s protiepileptičnimi zdravili večinoma dolgotrajno, še posebno pomembno. Genetske variante v genih, ki sodelujejo v presnovi in tr ...

Leto: 2020 Vir: Medicinska fakulteta (UL MF)

ǂThe ǂgenetic architecture of congenital heart disease in neonatal intensive care unit patients

Ana Marija Peterlin, Sara Bertok, Karin Writzl, Luca Lovrečić, Aleš Maver, Borut Peterlin, Maruša Debeljak, Gregor Nosan

Izvirni znanstveni članek

Oznake: congenital heart disease;chromosomal microarray analysis;next-generation sequencing;diagnostic yield;

Congenital heart disease (CHD) is the most commonly detected congenital anomaly and affects up to 1% of all live-born neonates. Current guidelines support the use of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) as diagnostic approaches to identify genetic causes. The ai ...

Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije

Challenges in establishing optimal pediatric palliative care at the university hospital in Slovenia

Jakob Meglič, Ajda Lisec, Ajda Lisec, Dušanka Lepej, Tanja Loboda, Sara Bertok, Petra Lešnik Musek, Ivana Kreft, Majda Oštir, Tehvida Ponjević, Anamarija Meglič

Izvirni znanstveni članek

Oznake: pediatric palliative care;implementation;life-limiting disease;life-threatening condition;quality of children’s life;

The integration of pediatric palliative care (PPC) should become a standard of care for all children with life-limiting and life-threatening illnesses. There are many barriers and misperceptions in pediatrics which hinder the early implementation of PPC. The aim of the study was to design starting p ...

Leto: 2023 Vir: Repozitorij Univerze v Ljubljani (RUL)

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Robert Saho, Vita Dolžan, Mojca Žerjav-Tanšek, Katarina Trebušak Podkrajšek, Jasna Šuput, Sara Bertok, Magdalena Avbelj, Primož Kotnik, Tadej Battelino, Urh Grošelj, Urh Grošelj

Izvirni znanstveni članek

Oznake: congenital adrenal hyperplasia;CAH;CYP21A2;genotype-phenotype;21 hydroxylase deficiency;21-OH deficiency;newborn screening;testicular adrenal rest tumors (TART);

Objective: To analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia. Design and methods: Data were obtained from ...

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

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – a novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

Jaka Šikonja, Jernej Brecelj, Mojca Žerjav-Tanšek, Barbka Repič-Lampret, Ana Drole Torkar, Simona Primožič, Neža Lipovec, Valentina Stefanova, Sara Bertok, Jernej Kovač, Barbara Faganel, Markéta Tesařová, Žiga Iztok Remec, Maruša Debeljak, Tadej Battelino, Urh Grošelj

Izvirni znanstveni članek

Oznake: pediatrija;tirozenemija;presejalno testiranje;tyrosinemia;fumarylacetoacetate hydrolase;nitisinone;dried blood spot;succinylacetone;intronic variant;

Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment. We presented the follow up of the only two Slovenian patients diagnosed with H ...

Leto: 2022 Vir: Medicinska fakulteta (UL MF)

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

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)

Jan Kafol, Barbara Gnidovec Stražišar, Ana Drole Torkar, Matjaž Homan, Sara Bertok, Matej Mlinarič, Jaka Šikonja, Jernej Kovač, Mirjana Perković-Benedik, Tanja Kersnik-Levart, Mojca Žerjav-Tanšek, Marina Praprotnik, Tadej Battelino, Maruša Debeljak, Urh Grošelj, Urh Grošelj

Pregledni znanstveni članek

Oznake: ARC syndrome;ARCS2;Arthrogryposis–renal dysfunction–cholestasis syndrome;VIPAR;VIPAS39;

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 Kosovo, describing the clinical, geneti ...

Leto: 2024 Vir: Repozitorij Univerze v Ljubljani (RUL)

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

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)

Gene therapy of rare diseases as a milestone in medicine

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)

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