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

por Remec, Ziga I., Trebusak Podkrajsek, Katarina, Repic Lampret, Barbka, Kovac, Jernej, Groselj, Urh, Tesovnik, Tine, Battelino, Tadej, Debeljak, Marusa
Publicado 2021

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

por Bizjak, Neli, Zerjav Tansek, Mojca, Avbelj Stefanija, Magdalena, Repic Lampret, Barbka, Mezek, Ajda, Drole Torkar, Ana, Battelino, Tadej, Groselj, Urh
Publicado 2020

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening

por Smon, Andraz, Groselj, Urh, Debeljak, Marusa, Zerjav Tansek, Mojca, Bertok, Sara, Avbelj Stefanija, Magdalena, Trebusak Podkrajsek, Katarina, Battelino, Tadej, Repic Lampret, Barbka
Publicado 2018

Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program

por Perko, Dasa, Repic Lampret, Barbka, Remec, Ziga Iztok, Zerjav Tansek, Mojca, Drole Torkar, Ana, Krhin, Blaz, Bicek, Ajda, Oblak, Adrijana, Battelino, Tadej, Groselj, Urh
Publicado 2022

Phenylalanine-tRNA aminoacylation is compromised by ALS/FTD-associated C9orf72 C4G2 repeat RNA

por Malnar Črnigoj, Mirjana, Čerček, Urša, Yin, Xiaoke, Ho, Manh Tin, Repic Lampret, Barbka, Neumann, Manuela, Hermann, Andreas, Rouleau, Guy, Suter, Beat, Mayr, Manuel, Rogelj, Boris
Publicado 2023

Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phen...

por 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
Publicado 2023

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

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

Attachment in close relationships and glycemic outcomes in children with type 1 diabetes

por Klemenčič, Simona, Lipovšek, Jasna Klara, Turin, Anja, Dovč, Klemen, Bratina, Nataša, Shmueli-Goetz, Yael, Trebušak Podkrajšek, Katarina, Repič Lampret, Barbka, Jenko Bizjan, Barbara, Karakatič, Sašo, Battelino, Tadej, Drobnič Radobuljac, Maja
Publicado 2023

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

por Sikonja, Jaka, Brecelj, Jernej, Zerjav Tansek, Mojca, Repic Lampret, Barbka, Drole Torkar, Ana, Klemencic, Simona, Lipovec, Neza, Stefanova Kralj, Valentina, Bertok, Sara, Kovac, Jernej, Faganel Kotnik, Barbara, Tesarova, Marketa, Remec, Ziga Iztok, Debeljak, Marusa, Battelino, Tadej, Groselj, Urh
Publicado 2021

Current Status of Newborn Screening in Southeastern Europe

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