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Browsing by Author Perez, Belen
Showing results 1 to 4 of 4
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 2018 | Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model | Klaassen, Kristel   ; Djordjevic, Maja; Skakić, Anita ; Desviat, Lourdes R.; Pavlović, Sonja ; Perez, Belen; Stojiljković, Maja | Naučni članak | 22M22 - Međunarodni časopis kategorije M22 |
| 2015 | Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia | Stojiljković, Maja ; Klaassen, Kristel ; Đorđević, Maja; Sarajlija, Adrijan ; Kecman, Bozica; Ugrin, Milena ; Zukić, Branka ; Desviat, Lourdes R.; Pavlović, Sonja ; Perez, Belen | Naučni članak | 23M23 - Međunarodni časopis kategorije M23 |
| 2020 | The Genetic Landscape and Epidemiology of Phenylketonuria | Hillert, Alicia; Anikster, Yair; Belanger-Quintana, Amaya; Burlina, Alberto; Burton, Barbara K.; Carducci, Carla; Chiesa, Ana E.; Christodoulou, John; Đorđević, Maja; Desviat, Lourdes R.;
Eliyahu, Aviva; Evers, Roeland A. F.; Fajkusova, Lena; Feillet, Francois; Bonfim-Freitas, Pedro E.; Gizewska, Maria; Gundorova, Polina; Karall, Daniela; Kneller, Katya; Kutsev, Sergey, I; Leuzzi, Vincenzo; Levy, Harvey L.; Lichter-Konecki, Uta; Muntau, Ania C.; Namour, Fares; Oltarzewski, Mariusz; Paras, Andrea; Perez, Belen; Polak, Emil; Polyakov, Alexander, V; Porta, Francesco; Rohrbach, Marianne; Scholl-Burgi, Sabine; Specola, Norma; Stojiljković, Maja
; Shen, Nan; Santana-da Silva, Luiz C.; Skouma, Anastasia; van Spronsen, Francjan; Stoppioni, Vera; Thony, Beat; Trefz, Friedrich K.; Vockley, Jerry; Yu, Youngguo; Zschocke, Johannes; Hoffmann, Georg F.; Garbade, Sven F.; Blau, Nenad; | Научни чланак | 21a+M21a+ - Водећи међународни часопис категорије M21a+ |
| 2009 | The Missense p.S231F Phenylalanine Hydroxylase Gene Mutation Causes Complete Loss of Enzymatic Activity In Vitro | Stojiljković, Maja ; Perez, Belen; Desviat, Lourdes R.; Aguado, Cristina; Ugarte, Magdalena; Pavlović, Sonja | Naučni članak | 23M23 - Međunarodni časopis kategorije M23 |