A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review

Por Arko, Janez Jan, Debeljak, Marusa, Tansek, Mojca Zerjav, Battelino, Tadej, Groselj, Urh
Publicado no J Int Med Res (2020)

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)

Por Lampret, Barbka Repic, Murko, Simona, Debeljak, Marusa, Tansek, Mojca Zerjav, Fister, Petja, Battelino, Tadej
Publicado no Biochem Med (Zagreb) (2015)

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 no J Med Biochem (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 no Zdr Varst (2020)