檢索結果 - Grošelj, Urh

Ethics of Vaccination in Childhood—A Framework Based on the Four Principles of Biomedical Ethics 由 Rus, Meta, Groselj, Urh

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Sex-Related Differences in Cardiovascular Disease Risk Profile in Children and Adolescents with Type 1 Diabetes 由 Smigoc Schweiger, Darja, Battelino, Tadej, Groselj, Urh

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Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia 由 Stanimirovic, Dalibor, Murko, Eva, Battelino, Tadej, Groselj, Urh

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High-Sensitivity C-Reactive Protein and Carotid Intima Media Thickness as Markers of Subclinical Inflammation and Atherosclerosis in Pediatric Patients with Hypercholesterolemia 由 Blinc, Lana, Mlinaric, Matej, Battelino, Tadej, Groselj, Urh

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Experiences of Slovene ICU Physicians with End-of-Life Decision Making: A Nation-Wide Survey 由 Groselj, Urh, Orazem, Miha, Kanic, Maja, Vidmar, Gaj, Grosek, Stefan

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Carotid Intima-Media Thickness in Healthy Children and Adolescents: Normative Data and Systematic Literature Review 由 Drole Torkar, Ana, Plesnik, Emil, Groselj, Urh, Battelino, Tadej, Kotnik, Primoz

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Drafting a blueprint for the design of a rare disease ecosystem in Slovenia: Identifying salient opportunities and outlining policy recommendations 由 Stanimirovic, Dalibor, Murko, Eva, Battelino, Tadej, Groselj, Urh, Zerjav Tansek, Mojca

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Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach 由 Stanimirovic, Dalibor, Murko, Eva, Battelino, Tadej, Groselj, Urh, Zerjav Tansek, Mojca

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A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review 由 Arko, Janez Jan, Debeljak, Marusa, Tansek, Mojca Zerjav, Battelino, Tadej, Groselj, Urh

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Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)—Long-Term Follow-Up of a Patient and Literature Review 由 Mlinaric, Matej, Bratanic, Nevenka, Dragos, Vlasta, Skarlovnik, Ajda, Cevc, Matija, Battelino, Tadej, Groselj, Urh

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Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH(4))-responsiveness in patients with hyperphenylalaninemia 由 Lampret, Barbka Repic, Tansek, Mojca Zerjav, Groselj, Blaz, Sikonja, Jaka, Battelino, Tadej, Groselj, Urh

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Global impact of COVID-19 on newborn screening programmes 由 Koracin, Vanesa, Loeber, J Gerard, Mlinaric, Matej, Battelino, Tadej, Bonham, James R, Groselj, Urh

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Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa 由 Marusic, Tatiana, Zerjav Tansek, Mojca, Sirca Campa, Andreja, Mezek, Ajda, Berden, Pavel, Battelino, Tadej, Groselj, Urh

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Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia 由 Zerjav Tansek, Mojca, Bertoncel, Ana, Sebez, Brina, Zibert, Janez, Groselj, Urh, Battelino, Tadej, Avbelj Stefanija, Magdalena

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Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA 由 Marusic, Tatiana, Zerjav Tansek, Mojca, Sirca Campa, Andreja, Mezek, Ajda, Berden, Pavel, Battelino, Tadej, Groselj, Urh

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The first nationwide study on facing and solving ethical dilemmas among healthcare professionals in Slovenia 由 Grosek, Štefan, Kučan, Rok, Grošelj, Jon, Oražem, Miha, Grošelj, Urh, Erčulj, Vanja, Lajovic, Jaro, Borovečki, Ana, Ivanc, Blaž

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Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene 由 Pajek, Maja, Avbelj Stefanija, Magdalena, Trebusak Podkrajsek, Katarina, Suput Omladic, Jasna, Zerjav Tansek, Mojca, Battelino, Tadej, Groselj, Urh

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An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature 由 Hovnik, Tinka, Zitnik, Eva, Avbelj Stefanija, Magdalena, Bertok, Sara, Sedej, Katarina, Bancic Silva, Vesna, Battelino, Tadej, Groselj, Urh

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Next-Generation Sequencing in Newborn Screening: A Review of Current State 由 Remec, Ziga I., Trebusak Podkrajsek, Katarina, Repic Lampret, Barbka, Kovac, Jernej, Groselj, Urh, Tesovnik, Tine, Battelino, Tadej, Debeljak, Marusa

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Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation 由 Bizjak, Neli, Zerjav Tansek, Mojca, Avbelj Stefanija, Magdalena, Repic Lampret, Barbka, Mezek, Ajda, Drole Torkar, Ana, Battelino, Tadej, Groselj, Urh

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