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

Next-Generation Sequencing in Newborn Screening: A Review of Current State

by Ziga I. Remec, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Barbka Repic Lampret, Jernej Kovac, Urh Groselj, Urh Groselj, Tine Tesovnik, Tadej Battelino, Tadej Battelino, Marusa Debeljak, Marusa Debeljak
Published 2021-05-01

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

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