Works matching AU Groselj, Urh

Results: 48
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    International Survey on Phenylketonuria Newborn Screening.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 18, doi. 10.3390/ijns11010018
    By:
    • Trampuž, Domen;
    • Schielen, Peter C. J. I.;
    • Zetterström, Rolf H.;
    • Scarpa, Maurizio;
    • Feillet, François;
    • Kožich, Viktor;
    • Tangeraas, Trine;
    • Drole Torkar, Ana;
    • Mlinarič, Matej;
    • Perko, Daša;
    • Remec, Žiga Iztok;
    • Lampret, Barbka Repič;
    • Battelino, Tadej;
    • van Spronsen, Francjan J.;
    • Bonham, James R.;
    • Grošelj, Urh
    Publication type:
    Article
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    Newborn Screening in a Pandemic—Lessons Learned.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 21, doi. 10.3390/ijns9020021
    By:
    • Mlinaric, Matej;
    • Bonham, James R.;
    • Kožich, Viktor;
    • Kölker, Stefan;
    • Majek, Ondrej;
    • Battelino, Tadej;
    • Torkar, Ana Drole;
    • Koracin, Vanesa;
    • Perko, Dasa;
    • Remec, Ziga Iztok;
    • Lampret, Barbka Repic;
    • Scarpa, Maurizio;
    • Schielen, Peter C. J. I.;
    • Zetterström, Rolf H.;
    • Groselj, Urh
    Publication type:
    Article
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    Towards Achieving Equity and Innovation in Newborn Screening across Europe.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 31, doi. 10.3390/ijns8020031
    By:
    • Sikonja, Jaka;
    • Groselj, Urh;
    • Scarpa, Maurizio;
    • la Marca, Giancarlo;
    • Cheillan, David;
    • Kölker, Stefan;
    • Zetterström, Rolf H.;
    • Kožich, Viktor;
    • Le Cam, Yann;
    • Gumus, Gulcin;
    • Bottarelli, Valentina;
    • van der Burg, Mirjam;
    • Dekkers, Eugenie;
    • Battelino, Tadej;
    • Prevot, Johan;
    • Schielen, Peter C. J. I.;
    • Bonham, James R.
    Publication type:
    Article
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    The time is now: Achieving FH paediatric screening across Europe – The Prague Declaration.

    Published in:
    GMS Health Innovation & Technologies, 2022, v. 16, p. 1, doi. 10.3205/hta000136
    By:
    • Bedlington, Nicole;
    • Abifadel, Marianne;
    • Beger, Birgit;
    • Bourbon, Mafalda;
    • Bueno, Héctor;
    • Ceska, Richard;
    • Cillíková, Kristýna;
    • Cimická, Zdenka;
    • Daccord, Magdalena;
    • de Beaufort, Carine;
    • Dharmayat, Kanika I.;
    • Ference, Brian A.;
    • Freiberger, Tomáš;
    • Geanta, Marius;
    • Gidding, Samuel S.;
    • Grošelj, Urh;
    • Halle, Martin;
    • Johnson, Neil;
    • Novakovic, Tanja;
    • Májek, Ondrej
    Publication type:
    Article
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    ESCAP statement on the care for children and adolescents with gender dysphoria: an urgent need for safeguarding clinical, scientific, and ethical standards.

    Published in:
    European Child & Adolescent Psychiatry, 2024, v. 33, n. 6, p. 2011, doi. 10.1007/s00787-024-02440-8
    By:
    • Drobnič Radobuljac, Maja;
    • Grošelj, Urh;
    • Kaltiala, Riittakerttu;
    • Vermeiren, Robert;
    • Anagnostopoulos, Dimitris;
    • Çuhadaroglu Çetin, Füsun;
    • Crommen, Sofie;
    • Eliez, Stephan;
    • Kravić, Nermina;
    • Kotsis, Konstantinos;
    • Fegert, Jörg M.;
    • Danese, Andrea;
    • Hillegers, Manon;
    • Hoekstra, Pieter J.;
    • Kiss, Enikő;
    • Klauser, Paul;
    • Råberg Christensen, Anne Marie;
    • Schröder, Carmen
    Publication type:
    Article
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    Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.

    Published in:
    Genes, 2022, v. 13, n. 5, p. 717, doi. 10.3390/genes13050717
    By:
    • Krasovec, Tjasa;
    • Sikonja, Jaka;
    • Zerjav Tansek, Mojca;
    • Debeljak, Marusa;
    • Ilovar, Sasa;
    • Trebusak Podkrajsek, Katarina;
    • Bertok, Sara;
    • Tesovnik, Tine;
    • Kovac, Jernej;
    • Suput Omladic, Jasna;
    • Hartmann, Michaela F.;
    • Wudy, Stefan A.;
    • Avbelj Stefanija, Magdalena;
    • Battelino, Tadej;
    • Kotnik, Primoz;
    • Groselj, Urh
    Publication type:
    Article
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    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.

    Published in:
    Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1134133
    By:
    • Saho, Robert;
    • Dolzan, Vita;
    • Tansek, Mojca Zerjav;
    • Pastorakova, Andrea;
    • Petrovic, Robert;
    • Knapkova, Maria;
    • Podkrajsek, Katarina Trebusak;
    • Omladic, Jasna Suput;
    • Bertok, Sara;
    • Stefanija, Magdalena Avbelj;
    • Kotnik, Primoz;
    • Battelino, Tadej;
    • Pribilincova, Zuzana;
    • Groselj, Urh
    Publication type:
    Article
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    Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2487, doi. 10.3390/ijms24032487
    By:
    • Perko, Dasa;
    • Groselj, Urh;
    • Cuk, Vanja;
    • Iztok Remec, Ziga;
    • Zerjav Tansek, Mojca;
    • Drole Torkar, Ana;
    • Krhin, Blaz;
    • Bicek, Ajda;
    • Oblak, Adrijana;
    • Battelino, Tadej;
    • Repic Lampret, Barbka
    Publication type:
    Article
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    Editorial: Rare dyslipidemias.

    Published in:
    Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1248435
    By:
    • Sadiq, Fouzia;
    • Hegele, Robert A.;
    • Catapano, Alberico L.;
    • Groselj, Urh
    Publication type:
    Article
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    Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.

    Published in:
    Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1387419
    By:
    • Ain, Quratul;
    • Cevc, Matija;
    • Marusic, Tatiana;
    • Sikonja, Jaka;
    • Sadiq, Fouzia;
    • Sustar, Ursa;
    • Mlinaric, Matej;
    • Kovac, Jernej;
    • Batool, Hijab;
    • Khan, Mohammad Iqbal;
    • Podkrajsek, Katarina Trebusak;
    • Bizjan, Barbara Jenko;
    • Battelino, Tadej;
    • Fras, Zlatko;
    • Ajmal, Muhammad;
    • Groselj, Urh
    Publication type:
    Article
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    Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03828-8
    By:
    • Grošelj, Urh;
    • Kavčič, Marko;
    • Drole Torkar, Ana;
    • Kafol, Jan;
    • Lainšček, Duško;
    • Jerala, Roman;
    • Sever, Matjaž;
    • Zver, Samo;
    • Serša, Gregor;
    • Čemažar, Maja;
    • Strojan, Primož;
    • Grošelj, Aleš;
    • Žerjav Tanšek, Mojca;
    • Miroševič, Špela;
    • Ivančan, Simona;
    • Prelog, Tomaž;
    • Gosar, David;
    • Oražem Mrak, Jasna;
    • Mlinarič, Matej;
    • Bertok, Sara
    Publication type:
    Article
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    VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03486-2
    By:
    • Kafol, Jan;
    • Gnidovec Strazisar, Barbara;
    • Drole Torkar, Ana;
    • Homan, Matjaz;
    • Bertok, Sara;
    • Mlinaric, Matej;
    • Sikonja, Jaka;
    • Kovač, Jernej;
    • Perkovic Benedik, Mirjana;
    • Kersnik Levart, Tanja;
    • Zerjav Tansek, Mojca;
    • Praprotnik, Marina;
    • Battelino, Tadej;
    • Debeljak, Maruša;
    • Groselj, Urh
    Publication type:
    Article
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    Phenylketonuria screening and management in southeastern Europe -- survey results from 11 countries.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0283-0
    By:
    • Tansek, Mojca Zerjav;
    • Groselj, Urh;
    • Angelkova, Natalija;
    • Anton, Dana;
    • Baric, Ivo;
    • Djordjevic, Maja;
    • Grimci, Lindita;
    • Ivanova, Maria;
    • Kadam, Adil;
    • Kotori, Vjosa;
    • Maksic, Hajrija;
    • Marginean, Oana;
    • Margineanu, Otilia;
    • Miljanovic, Olivera;
    • Moldovanu, Florentina;
    • Muresan, Mariana;
    • Nanu, Michaela;
    • Samardzic, Mira;
    • Sarnavka, Vladimir;
    • Savov, Aleksei
    Publication type:
    Article
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