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  • ETIČNI VIDIKI CEPLJENJA V O... ETIČNI VIDIKI CEPLJENJA V OTROŠTVU
    Rus, Meta; Grošelj, Urh Slovenska pediatrija, 06/2021, Volume: 28, Issue: 2
    Journal Article
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    V državah z dobro vzpostavljenimi cepilnimi programi je cepljenje “žrtev lastnega uspeha”, saj je nizka pojavnost bolezni, ki jih preprečujemo s cepljenjem, zmanjšala izkušnjo njihovega bremena in s ...
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  • PRESEJALNO TESTIRANJE NOVOR... PRESEJALNO TESTIRANJE NOVOROJENČKOV ZA VROJENE BOLEZNI V SLOVENIJI
    Kovač, Jernej; Repič Lampret, Barbka; Iztok Remec, Žiga ... Slovenska pediatrija, 05/2024, Volume: 31, Issue: 2
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    Presejalno testiranje novorojenčkov (PTN) je ena svetovnih javnozdravstvenih zgodb o uspehu. Izvaja se v veliki večini razvitih držav sveta, razlikuje pa se le po obsegu in usmeritvah testiranja. ...
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  • Expanded newborn screening ... Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing
    Lampret, Barbka Repič; Remec, Žiga Iztok; Torkar, Ana Drole ... Zdravstveno varstvo, 12/2020, Volume: 59, Issue: 4
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    In the last two decades, the introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing of numerous acylcarnitines and amino acids from dried blood spots for ...
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  • GENSKO ZDRAVLJENJE PRI MUKO... GENSKO ZDRAVLJENJE PRI MUKOPOLISAHARIDOZI TIPA IIIA: PREDSTAVITEV PRIMEROV
    Lah, Benjamin; Jalšovec, Tadej; Drole Torkar, Ana ... Slovenska pediatrija, 05/2022, Volume: 29, Issue: 2
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    Mukopolisaharidoze so lizosomske bolezni kopičenja, pri katerih se klinična slika razvija postopno. Bolezni napredujejo in prizadenejo številne organe. S trenutno dostopnimi možnostmi zdravljenja ...
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  • Prikaz primera prvega uspeš... Prikaz primera prvega uspešnega genskega zdravljenja slovenskega bolnika z mukopolisaharidozo tipa I v tujini
    Jalšovec, Tadej; Lah, Benjamin; Bernardo, Maria Ester ... Zdravniški vestnik (Ljubljana, Slovenia : 1992), 12/2022, Volume: 91, Issue: 11-12
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    Mukopolisaharidoze so skupina lizosomskih bolezni kopičenja. Njihova skupna značilnost je pomanjkanje delovanja encimov, ki razgrajujejo glikozaminoglikane, polisaharide, ki se povezujejo s ...
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  • The first nationwide study ... The first nationwide study on facing and solving ethical dilemmas among healthcare professionals in Slovenia
    Grosek, Stefan; Kucan, Rok; Groselj, Jon ... PloS one, 07/2020, Volume: 15, Issue: 7
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    Background Healthcare professionals (HCPs), patients and families are often faced with ethical dilemmas. The role of healthcare ethics committees (HECs) is to offer support in these situations. Aim ...
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  • Universal screening for fam... Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review
    Groselj, Urh; Kovac, Jernej; Sustar, Ursa ... Atherosclerosis, October 2018, 2018-10-00, 20181001, Volume: 277
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    Familial hypercholesterolemia (FH) is arguably the most common monogenic disorder in humans, but severely under-diagnosed. Individuals with untreated FH have an over 10-fold elevated risk of ...
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  • High-Sensitivity C-Reactive... High-Sensitivity C-Reactive Protein and Carotid Intima Media Thickness as Markers of Subclinical Inflammation and Atherosclerosis in Pediatric Patients with Hypercholesterolemia
    Blinc, Lana; Mlinaric, Matej; Battelino, Tadej ... Molecules (Basel, Switzerland), 11/2020, Volume: 25, Issue: 21
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    Hypercholesterolemia is a major cause of atherosclerosis development and premature cardiovascular disease (CVD). It leads to inflammation, which further accelerates atherosclerosis progression. ...
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  • Sex-Related Differences in ... Sex-Related Differences in Cardiovascular Disease Risk Profile in Children and Adolescents with Type 1 Diabetes
    Smigoc Schweiger, Darja; Battelino, Tadej; Groselj, Urh International journal of molecular sciences, 10/2021, Volume: 22, Issue: 19
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    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 diabetes. In addition, women with T1D ...
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  • Ethics of Vaccination in Ch... Ethics of Vaccination in Childhood-A Framework Based on the Four Principles of Biomedical Ethics
    Rus, Meta; Groselj, Urh Vaccines (Basel), 02/2021, Volume: 9, Issue: 2
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    Although vaccination is recognised as the top public health achievement of the twentieth century, unequivocal consensus about its beneficence does not exist among the general population. In countries ...
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