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Št. zadetkov: 10
Obsevanje živil - doprinos k večji varnosti živil ali razlog za preplah?
Mojca Jevšnik, Mojca Repič, Darinka Z. Doganoc
Pregledni znanstveni članek
Oznake: obsevanje živil;varnost živil;zakonodaja;
Obsevanje živil - doprinos k večji varnosti živil ali razlog za preplah?
Leto: 2007 Vir: Zdravstvena fakulteta (UL ZF)
Možnost razvoja gorskega kolesarjenja na območju Bovca
Petra Repič, Mojca Golobič
Diplomsko delo
Oznake: gorsko kolesarstvo;Bovec;krajinska arhitektura;
Možnost razvoja gorskega kolesarjenja na območju Bovca
Leto: 2016 Vir: Biotehniška fakulteta (UL BF)
Računalniško modeliranje ireverzibilne inhibicije encima monoamin-oksidaze B
Matej Repič, Mojca Kržan, Janez Mavri
Diplomsko delo
Oznake: bazalni ganglioji;nevrotransmisija;volga dopamina;centralni živčni sistem;monoamin-oksidaza B;
Računalniško modeliranje ireverzibilne inhibicije encima monoamin-oksidaze B
Leto: 2010 Vir: Fakulteta za farmacijo (UL FFA)
Effect of antioxidant-rich kindergarten meals on oxidative stress biomarkers in healthy 5-6-year-old children
Maja Berlic, Mojca Korošec, Žiga Iztok Remec, Vanja Čuk, Tadej Battelino, Barbka Repič-Lampret
Izvirni znanstveni članek
Oznake: prehrana otrok;predšolski otroci;vrtec;dnevni obroki;antioksidanti;antioxidant-rich diet;oxidative stress biomarkers ;dietary antioxidant capacity ; reactive oxygen metabolites ;F2-isoprostanes ;kindergarten diet;
As children spend up to 9 h a day in kindergarten, the main purpose of our study was to evaluate the effect of antioxidant-rich kindergarten meals on oxidative stress biomarkers (OSBs) in healthy children. In the randomized control trial with a follow-up, healthy 5–6-year-old children from six kind ...
Leto: 2024 Vir: Biotehniška fakulteta (UL BF)
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)
Current status of newborn screening in Southeastern and Central Europe
Nika Požun, Daša Perko, Violeta Anastasovska, Tadej Battelino, Ana Drole Torkar, Matej Mlinarič, Žiga Iztok Remec, Barbka Repič-Lampret, Domen Trampuž, Mojca Žerjav-Tanšek, Urh Grošelj
Izvirni znanstveni članek
Oznake: newborn screening;NBS;Southeastern Europe;Central Europe;neonatal screening;expanded NBS program;
Newborn screening (NBS) is a well-established public health program that enables early detection and treatment of rare disorders in newborns, preventing severe complications or death. Despite its recognized importance, the scope and implementation of NBS programs vary across Southeastern (SE) and Ce ...
Leto: 2026 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
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)
Branched-chain amino acid transferase 2 (BCAT2) deficiency
Maja Filipič, Žiga Iztok Remec, Ana Drole Torkar, Nataša Šuštar, Vanja Čuk, Chiara Rodaro, Maruša Debeljak, Matej Mlinarič, Jaka Šikonja, Vesna Bančič, Primož Kotnik, Tadej Battelino, Mojca Žerjav-Tanšek, Urh Grošelj, Barbka Repič-Lampret
Izvirni znanstveni članek
Oznake: BCAT2;branched-chain amino acids;antihistamine branched-chain amino acid transaminase;hypervalinemia;hyperleucine-isoleucinemia;insulin resistance;white matter abnormalities;
Background: Branched-chain amino acid transaminase 2 (BCAT2) deficiency is an autosomal recessive disorder that impairs branched-chain amino acid (BCAA) catabolism. Its clinical and metabolic features remain poorly understood due to limited reports in the literature. Methods: We report three novel c ...
Leto: 2026 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)
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)
Št. zadetkov: 10
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