Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries

por Magner, Martin, Almássy, Zsuzsanna, Gucev, Zoran, Kieć-Wilk, Beata, Plaiasu, Vasilica, Tylki-Szymańska, Anna, Zafeiriou, Dimitrios, Zaganas, Ioannis, Lampe, Christina
Publicado 2022

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

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers

por Tylki-Szymańska, Anna, Almássy, Zsuzsanna, Christophidou-Anastasiadou, Violetta, Avdjieva-Tzavella, Daniela, Barisic, Ingeborg, Cerkauskiene, Rimante, Cuturilo, Goran, Djiordjevic, Maja, Gucev, Zoran, Hlavata, Anna, Kieć-Wilk, Beata, Magner, Martin, Pecin, Ivan, Plaiasu, Vasilica, Samardzic, Mira, Zafeiriou, Dimitrios, Zaganas, Ioannis, Lampe, Christina
Publicado 2022

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

por Scarpa, Maurizio, Almássy, Zsuzsanna, Beck, Michael, Bodamer, Olaf, Bruce, Iain A, De Meirleir, Linda, Guffon, Nathalie, Guillén-Navarro, Encarna, Hensman, Pauline, Jones, Simon, Kamin, Wolfgang, Kampmann, Christoph, Lampe, Christina, Lavery, Christine A, Leão Teles, Elisa, Link, Bianca, Lund, Allan M, Malm, Gunilla, Pitz, Susanne, Rothera, Michael, Stewart, Catherine, Tylki-Szymańska, Anna, van der Ploeg, Ans, Walker, Robert, Zeman, Jiri, Wraith, James E
Publicado 2011