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Преглед према Аутор Perez, Belen
Приказ резултата 1 до 4 од 4
Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
---|---|---|---|---|
2018 | Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model | Klaassen, Kristel ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |
2015 | Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia (✓) | Stojiljković, Maja ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |
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
![]() ![]() | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
2009 | The Missense p.S231F Phenylalanine Hydroxylase Gene Mutation Causes Complete Loss of Enzymatic Activity In Vitro | Stojiljković, Maja ![]() ![]() ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |