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Št. zadetkov: 10
Nasilje v šolah in pravice otrok
Ana Repič, Barbara Rajgelj
Diplomsko delo
Oznake: Šole;Otroci;Nasilje;Otrokove pravice;
Nasilje v šolah in pravice otrok
Leto: 2009 Vir: Fakulteta za družbene vede (UL FDV)
Vreme, čas, svetloba in tema v družbenih razsežnostih islandske krajine
Ana Svetel, Jaka Repič
Doktorska disertacija
Oznake: etnologija;krajina;časovnost;svetloba;tema;vreme;sezonskost;Islandija;
Leto: 2022 Vir: Filozofska fakulteta (UL FF)
Doživljanje bioloških otrok rejnikov v rejniških družinah
Ana Brumec, Tanja Repič Slavič
Magistrsko delo
Oznake: rejništvo;rejniške družine;biološki otroci rejnikov;starši;rejenci;biološki otroci;odnosi;magistrske naloge;
V pričujočem magistrskem delu avtorica raziskuje doživljanja bioloških otrok rejnikov v slovenskih rejniških družinah. Teoretični del najprej ponudi pregled ureditve rejništva v Sloveniji, različnih teoretičnih pristopov k razumevanju družine, specifične dinamike rejniške družine in ugotovitev dosed ...
Leto: 2019 Vir: Teološka fakulteta (UL TEOF)
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)
Enhanced oral glucose tolerance test for early detection of insulin resistance and metabolic complications in children with obesity
Urh Grošelj, Jan Kafol, Jaka Šikonja, Matej Mlinarič, Robert Šket, Žiga Iztok Remec, Jernej Kovač, Ana Drole Torkar, Jasna Šuput, Barbka Repič-Lampret, Tadej Battelino, Primož Kotnik
Izvirni znanstveni članek
Oznake: insulin resistance;oral glucose tolerance test;OGTT;metabolic complications;screening;children;adolescents;obesity;
Background and aims: Early detection of insulin resistance (IR) and obesity-related complications is crucial for preventing type 2 diabetes. This study aimed to identify dynamic metabolic biomarkers for more precise early detection of IR and metabolic abnormalities. Methods: This cross-sectional coh ...
Leto: 2025 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
International survey on Phenylketonuria newborn screening
Domen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič-Lampret, Tadej Battelino, Urh Grošelj
Izvirni znanstveni članek
Oznake: phenylketonuria;newborn;neonatal;screening;international;survey;laboratory;methods;cut-off;
ewborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practices still vary widely across countries and centers. ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
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)
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)
Št. zadetkov: 10
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