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 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 2015

Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH(4))-responsiveness in patients with hyperphenylalaninemia

por Lampret, Barbka Repic, Tansek, Mojca Zerjav, Groselj, Blaz, Sikonja, Jaka, Battelino, Tadej, Groselj, Urh
Publicado 2022

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

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

Reye Syndrome with Severe Hyperammonemia and a Good Neurological Outcome

por Pribožič, Lucija, Tanšek, Mojca Žerjav, Herga, Primož, Osredkar, Damjan, Osredkar, Simona Rajtar, Vidmar, Ivan, Lampret, Barbka Repič, Klemenčič, Simona, Bratina, Nataša, Battelino, Tadej, Groselj, Urh
Publicado 2021

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