FERREIRA CASTELA PAIXAO CASACA, ANA CRISTINA
FERREIRA CASTELA PAIXAO CASACA, ANA CRISTINA
DIPARTIMENTO DI SCIENZE ECONOMICHE E STATISTICHE
Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals
2024 Stolwijk, N. N.; Haberle, J.; Huidekoper, H. H.; Wagenmakers, M. A. E. M.; Hollak, C. E. M.; Bosch, A. M.; Moslinger, D.; Nassogne, M. -C.; Vanlander, A.; Witters, P.; Jesina, P.; Zeman, J.; Lund, A. M.; Feillet, F.; Gramer, G.; Grunert, S. C.; Kolker, S.; Opladen, T.; Thimm, E.; Ziagaki, A.; Skouma, A.; Szakszon, K.; Monavari, A. A.; Procopio, E.; Rossi, A.; Rubert, L.; Taurisano, R.; Auzenbaha, M.; Janssen, M.; Tangeraas, T.; Gizewska, M.; Ferreira, A. C.; Groselj, U.; Bellusci, M.; Martin-Hernandez, E.; De Las Heras, J.; Felipe, A.; Murphy, E.
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
2026 Merkevicius, Kajus; Smirnov, Dmitrii; Schlieben, Lea D; Ganetzky, Rebecca; Feichtinger, René G; Jiang, Huafang; Fang, Fang; Ebihara, Tomohiro; Murayama, Kei; Ferrera, Giulia; Ardissone, Anna; Rokicki, Dariusz; Wesol-Kucharska, Dorota; Schröder, Sabine; Bauer, Peter; Bertoli-Avella, Aida; Østergaard, Elsebeth; Freisinger, Peter; Janssen, Mirian C H; Wagner, Matias; Abouyousef, Omar; Alhaddad, Bader; Alabdi, Lama; Alkuraya, Fowzan; Alston, Charlotte L; Baghdasaryan, Anna; Barca, Diana; Barić, Ivo; Bellusci, Marcello; Bevot, Andrea; Boltshauser, Eugen; Borggraefe, Ingo; Bouchereau, Juliette; Bruno, Claudio; Burnyte, Birute; Calhoun, Amy; Casas, Kari; Coker, Mahmut; Crushell, Ellen; De Lonlay, Pascal; Dionisi-Vici, Carlo; Distelmaier, Felix; Falk, Marni J; Ferreira, Ana Cristina; Ferreira, Carlos R; Ficicioglu, Can; Gokçay, Gulden Fatma; Häberle, Johannes; Heath, Oliver; Hellenschmidt, Albrecht; Hoefele, Julia; Hoffmann, Georg F; Honzik, Tomas; Huemer, Martina; Janeiro, Patrícia; Karaa, Amel; Kasapkara, Çiğdem Seher; Kern, Ilse; Klepper, Joerg; Klopstock, Thomas; Knerr, Ina; Koch, Johannes; Krumina, Zita; Lamperti, Costanza; Lebigot, Elise; Liu, Zhimei; Maier, Esther M; Martinelli, Diego; Mcfarland, Robert; Mendelsohn, Bryce; Molnar, Maria Judit; Mundy, Helen; Nassogne, Marie Cecile; Oliveira, Anabela; Õunap, Katrin; Panicucci, Chiara; Parikh, Sumit; Peters, Heidi; Pichard, Samia; Plecko, Barbara; Ramadža, Danijela P; Repetto, Gabriela M; Rivera, Isabel; Rodenburg, Richard J; Rossi, Alessandro; Schiff, Manuel; Seidemann, Kathrin; Smith, Wendy E; Soares, Sérgia; Siri, Barbara; Steinbrucker, Katja; Striano, Pasquale; Sykut-Cegielska, Jolanta; Tal, Galit; Taylor, Robert W; Tsiakas, Konstantinos; Kalkan Ucar, Sema; Hoytema Van Konijnenburg, Eva; Woidy, Mathias; Yaplito-Lee, Joy; Yildiz, Yilmaz; Zenker, Martin; Zsidegh, Petra; Westphal, Dominik; Sperl, Wolfgang; Meitinger, Thomas; Brown, Garry K; Prokisch, Holger; Mayr, Johannes A; Wortmann, Saskia B
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals | 1.1 Articolo in rivista | 2024 | Stolwijk, N. N.; Haberle, J.; Huidekoper, H. H.; Wagenmakers, M. A. E. M.; Hollak, C. E. M.; Bosch, A. M.; Moslinger, D.; Nassogne, M. -C.; Vanlander, A.; Witters, P.; Jesina, P.; Zeman, J.; Lund, A. M.; Feillet, F.; Gramer, G.; Grunert, S. C.; Kolker, S.; Opladen, T.; Thimm, E.; Ziagaki, A.; Skouma, A.; Szakszon, K.; Monavari, A. A.; Procopio, E.; Rossi, A.; Rubert, L.; Taurisano, R.; Auzenbaha, M.; Janssen, M.; Tangeraas, T.; Gizewska, M.; Ferreira, A. C.; Groselj, U.; Bellusci, M.; Martin-Hernandez, E.; De Las Heras, J.; Felipe, A.; Murphy, E. | |
| The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency | 1.1 Articolo in rivista | 2026 | Merkevicius, Kajus; Smirnov, Dmitrii; Schlieben, Lea D; Ganetzky, Rebecca; Feichtinger, René G; Jiang, Huafang; Fang, Fang; Ebihara, Tomohiro; Murayama, Kei; Ferrera, Giulia; Ardissone, Anna; Rokicki, Dariusz; Wesol-Kucharska, Dorota; Schröder, Sabine; Bauer, Peter; Bertoli-Avella, Aida; Østergaard, Elsebeth; Freisinger, Peter; Janssen, Mirian C H; Wagner, Matias; Abouyousef, Omar; Alhaddad, Bader; Alabdi, Lama; Alkuraya, Fowzan; Alston, Charlotte L; Baghdasaryan, Anna; Barca, Diana; Barić, Ivo; Bellusci, Marcello; Bevot, Andrea; Boltshauser, Eugen; Borggraefe, Ingo; Bouchereau, Juliette; Bruno, Claudio; Burnyte, Birute; Calhoun, Amy; Casas, Kari; Coker, Mahmut; Crushell, Ellen; De Lonlay, Pascal; Dionisi-Vici, Carlo; Distelmaier, Felix; Falk, Marni J; Ferreira, Ana Cristina; Ferreira, Carlos R; Ficicioglu, Can; Gokçay, Gulden Fatma; Häberle, Johannes; Heath, Oliver; Hellenschmidt, Albrecht; Hoefele, Julia; Hoffmann, Georg F; Honzik, Tomas; Huemer, Martina; Janeiro, Patrícia; Karaa, Amel; Kasapkara, Çiğdem Seher; Kern, Ilse; Klepper, Joerg; Klopstock, Thomas; Knerr, Ina; Koch, Johannes; Krumina, Zita; Lamperti, Costanza; Lebigot, Elise; Liu, Zhimei; Maier, Esther M; Martinelli, Diego; Mcfarland, Robert; Mendelsohn, Bryce; Molnar, Maria Judit; Mundy, Helen; Nassogne, Marie Cecile; Oliveira, Anabela; Õunap, Katrin; Panicucci, Chiara; Parikh, Sumit; Peters, Heidi; Pichard, Samia; Plecko, Barbara; Ramadža, Danijela P; Repetto, Gabriela M; Rivera, Isabel; Rodenburg, Richard J; Rossi, Alessandro; Schiff, Manuel; Seidemann, Kathrin; Smith, Wendy E; Soares, Sérgia; Siri, Barbara; Steinbrucker, Katja; Striano, Pasquale; Sykut-Cegielska, Jolanta; Tal, Galit; Taylor, Robert W; Tsiakas, Konstantinos; Kalkan Ucar, Sema; Hoytema Van Konijnenburg, Eva; Woidy, Mathias; Yaplito-Lee, Joy; Yildiz, Yilmaz; Zenker, Martin; Zsidegh, Petra; Westphal, Dominik; Sperl, Wolfgang; Meitinger, Thomas; Brown, Garry K; Prokisch, Holger; Mayr, Johannes A; Wortmann, Saskia B |