Carotid Intima-Media Thickness in Healthy Children and Adolescents: Normative Data and Systematic Literature Review

by Ana Drole Torkar, Emil Plesnik, Urh Groselj, Tadej Battelino, Tadej Battelino, Primoz Kotnik, Primoz Kotnik
Published 2020-11-01

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program

by Ziga I. Remec, Urh Groselj, Urh Groselj, Ana Drole Torkar, Ana Drole Torkar, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Vanja Cuk, Dasa Perko, Blanka Ulaga, Neza Lipovec, Marusa Debeljak, Marusa Debeljak, Jernej Kovac, Tadej Battelino, Tadej Battelino, Barbka Repic Lampret
Published 2021-04-01

Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation

by Neli Bizjak, Mojca Zerjav Tansek, Magdalena Avbelj Stefanija, Barbka Repic Lampret, Ajda Mezek, Ana Drole Torkar, Tadej Battelino, Urh Groselj
Published 2020-12-01

Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series

by Mojca Zerjav Tansek, Jana Kodric, Simona Klemencic, Jaap Jan Boelens, Peter M. van Hasselt, Ana Drole Torkar, Maja Doric, Alenka Koren, Simona Avcin, Tadej Battelino, Urh Groselj
Published 2021-09-01

Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient

by Ana Drole Torkar, Magdalena Avbelj Stefanija, Sara Bertok, Katarina Trebušak Podkrajšek, Katarina Trebušak Podkrajšek, Maruša Debeljak, Branislava Stirn Kranjc, Branislava Stirn Kranjc, Tadej Battelino, Tadej Battelino, Primož Kotnik, Primož Kotnik
Published 2021-06-01

Current Status of Newborn Screening in Southeastern Europe

by Vanesa Koracin, Matej Mlinaric, Ivo Baric, Ian Brincat, Maja Djordjevic, Ana Drole Torkar, Ana Drole Torkar, Ksenija Fumic, Mirjana Kocova, Tatjana Milenkovic, Florentina Moldovanu, Vjosa Mulliqi Kotori, Michaela Iuliana Nanu, Ziga Iztok Remec, Barbka Repic Lampret, Barbka Repic Lampret, Dimitrios Platis, Alexey Savov, Mira Samardzic, Biljana Suzic, Ildiko Szatmari, Alma Toromanovic, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Tadej Battelino, Tadej Battelino, Urh Groselj, Urh Groselj
Published 2021-05-01