A retrospective analysis of metabolic control in children with PKU in the COVID-19 era

por Becsei, Dóra, Kiss, Erika, Szatmári, Ildikó, Arató, András, Reusz, György, Szabó, Attila J., Bókay, János, Zsidegh, Petra
Publicado 2022

Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary

por Becsei, Dóra, Hiripi, Réka, Kiss, Erika, Szatmári, Ildiko, Arató, András, Reusz, György, Szabó, Attila J., Bókay, János, Zsidegh, Petra
Publicado 2021

Neonatal Screening for Cystic Fibrosis in Hungary—First-Year Experiences

por Xue, Andrea, Lénárt, István, Kincs, Judit, Szabó, Hajnalka, Párniczky, Andrea, Balogh, István, Deák, Anna, Monostori, Péter Béla, Hegedűs, Krisztina, Szabó, Attila J., Szatmári, Ildikó
Publicado 2023

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease

por Gal, Aniko, Grosz, Zoltán, Borsos, Beata, Szatmari, Ildikó, Sebők, Agnes, Jávor, Laszló, Harmath, Veronika, Szakszon, Katalin, Dezsi, Livia, Balku, Eniko, Jobbagy, Zita, Herczegfalvi, Agnes, Almássy, Zsuzsanna, Kerényi, Levente, Molnar, Maria Judit
Publicado 2021

Current Status of Newborn Screening in Southeastern Europe

por Koracin, Vanesa, Mlinaric, Matej, Baric, Ivo, Brincat, Ian, Djordjevic, Maja, Drole Torkar, Ana, Fumic, Ksenija, Kocova, Mirjana, Milenkovic, Tatjana, Moldovanu, Florentina, Mulliqi Kotori, Vjosa, Nanu, Michaela Iuliana, Remec, Ziga Iztok, Repic Lampret, Barbka, Platis, Dimitrios, Savov, Alexey, Samardzic, Mira, Suzic, Biljana, Szatmari, Ildiko, Toromanovic, Alma, Zerjav Tansek, Mojca, Battelino, Tadej, Groselj, Urh
Publicado 2021

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

por Loeber, J. Gerard, Platis, Dimitris, Zetterström, Rolf H., Almashanu, Shlomo, Boemer, François, Bonham, James R., Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O’Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D., Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C.J.I.
Publicado 2021