Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A

por Kavčič, Alja, Homan, Matjaž, Živanović, Milanka, Debeljak, Maruša, Butenko, Tita, Torkar, Ana Drole, Tanšek, Mojca Žerjav, Bertok, Sara, Battelino, Tadej, Groselj, Urh
Publicado 2022

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

Newborn Screening in a Pandemic—Lessons Learned

por Mlinaric, Matej, Bonham, James R., Kožich, Viktor, Kölker, Stefan, Majek, Ondrej, Battelino, Tadej, Torkar, Ana Drole, Koracin, Vanesa, Perko, Dasa, Remec, Ziga Iztok, Lampret, Barbka Repic, Scarpa, Maurizio, Schielen, Peter C. J. I., Zetterström, Rolf H., Groselj, Urh
Publicado 2023