Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population

por Lampret, Barbka Repič, Murko, Simona, Tanšek, Mojca Žerjav, Podkrajšek, Katarina Trebušak, Debeljak, Maruša, Šmon, Andraž, Battelino, Tadej
Publicado 2015

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

Newborn Screening in Slovenia

por ŠMON, Andraž, GROŠELJ, Urh, ŽERJAV TANŠEK, Mojca, BIČEK, Ajda, OBLAK, Adrijana, ZUPANČIČ, Mirjana, KRŽIŠNIK, Ciril, REPIČ LAMPR ET, Barbka, MURKO, Simona, HOJKER, Sergej, BATTELINO, Tadej
Publicado 2015

Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing

por Lampret, Barbka Repič, Remec, Žiga Iztok, Torkar, Ana Drole, Tanšek, Mojca Žerjav, Šmon, Andraz, Koračin, Vanesa, Čuk, Vanja, Perko, Daša, Ulaga, Blanka, Jelovšek, Ana Marija, Debeljak, Maruša, Kovač, Jernej, Battelino, Tadej, Grošelj, Urh
Publicado 2020