Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

by Daša Perko, Maruša Debeljak, Nataša Toplak, Tadej Avčin
Published 2015-01-01

PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome

by Ema Lovšin, Ema Lovšin, Jernej Kovač, Tine Tesovnik, Nataša Toplak, Nataša Toplak, Daša Perko, Tomaž Rozmarič, Maruša Debeljak, Maruša Debeljak, Tadej Avčin, Tadej Avčin
Published 2020-07-01

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

by Ziga I. Remec, Urh Groselj, Urh Groselj, Ana Drole Torkar, Ana Drole Torkar, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Vanja Cuk, Dasa Perko, Blanka Ulaga, Neza Lipovec, Marusa Debeljak, Marusa Debeljak, Jernej Kovac, Tadej Battelino, Tadej Battelino, Barbka Repic Lampret
Published 2021-04-01