European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance

• Autor(a) principal: Munck, Anne
• Data de Publicação: 2022
• Outros Autores: Berger, Daria O., Southern, Kevin W., Carducci, Carla, de Winter-de Groot, Karin M., Gartner, Silvia, Kashirskaya, Nataliya, Linnane, Barry, Proesmans, Marijke, Sands, Dorota, Sommerburg, Olaf, Castellani, Carlo, Barben, Jürg, Renner, Sabine, Zeyda, Max, de Wachter, Elke, Regal, Luc, Votava, Felix, Holubova, Andrea, Skov, Marianne, Morgan, Tessa, Bregeaut, Paul, O'Grady, Loretta, Bucci, Ines, Pantano, Stefano, Simonetti, Simonetta, De Venuto, Domenica, Salvatore, Donatello, Perrotti, Nicola, Caloiero, Mimma, Castaldo, Giuseppe, Tosco, Antonella, Righetti, Francesca, Pisi, Giovanna, Battistini, Fiorella, Angeloni, Antonio, Cimino, Giuseppe, Fiocchi, Giovanni, Angiolillo, Antonella, Cassanello, Michela, Alberti, Luisella, Claut, Laura E, Badolato, Raffaele, Pavanello, Enza, Fabrizzi, Benedetta, Bignamini, Elisabetta, Cardillo, Anna, Lombardo, Mariangela, Cocciadiferro, Letizia, Termini, Lisa, Dolce, Daniela, Terlizzi, Vito, Tamanini, Anna, Pauro, Francesca, la Marca, Giancarlo, Aleksejeva, Elina, Gaidule-Logina, Dita, Fustik, Stoika, Anastasovska, Violeta, Bouva, Marelle, Reid, Alastair, Cundick, Jennifer, Lundman, Emma, Bakkeheim, Egil, Zybert, Katarzyna, Oltarzewski, Mariusz, Vilarinho, Laura, Sherman, Victoria, Kondratyeva, Elena, Smith, Sarah, Dautovic, Gordana Vilotijevic, Knapkova, Maria, Mydlova, Zuzana, López, Rosa M., Velasco, Valle, Flores, Felicitas Díaz, Mejeras, Cristóbal Colón, Pedersen, Eva S.L., Ozcelik, Ugur, Karadag, Bulent, Makukh, Halyna, Stuart, Moat
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.18/8589
• topic: CFSPID, Carriers; CFTR Gene Analysis; Cystic Fibrosis; IRT; Newborn Bloodspot Screening; PAP; Doenças Genéticas

European CF Society Neonatal Screening Working Group (ECFS NSWG): Sabine Renner , Max Zeyda , Elke de Wachter , Luc Regal , Felix Votava, Andrea Holubova, Marianne Skov , Tessa Morgan, Paul Bregeaut , Loretta O'Grady, Ines Bucci , Stefano Pantano , Simonetta Simonetti, Domenica De Venuto, Donatello Salvatore, Nicola Perrotti, Mimma Caloiero, Giuseppe Castaldo, Antonella Tosco, Francesca Righetti, Giovanna Pisi, Fiorella Battistini, Antonio Angeloni, Giuseppe Cimino, Giovanni Fiocchi, Antonella Angiolillo, Michela Cassanello, Luisella Alberti, Laura E Claut, Raffaele Badolato, Enza Pavanello, Benedetta Fabrizzi, Elisabetta Bignamini, Anna Cardillo, Mariangela Lombardo, Letizia Cocciadiferro, Lisa Termini, Daniela Dolce, Vito Terlizzi, Anna Tamanini, Francesca Pauro, Giancarlo la Marca, Elina Aleksejeva, Dita Gaidule-Logina, Stoika Fustik, Violeta Anastasovska, Marelle Bouva, Alastair Reid, Jennifer Cundick, Emma Lundman, Egil Bakkeheim, Katarzyna Zybert, Mariusz Oltarzewski, Laura Vilarinho, Victoria Sherman, Elena Kondratyeva, Sarah Smith, Gordana Vilotijevic Dautovic, Maria Knapkova, Zuzana Mydlova, Rosa Mª López, Valle Velasco, Felicitas Díaz Flores, Cristóbal Colón Mejeras, Eva Sl Pedersen, Ugur Ozcelik, Bulent Karadag, Halyna Makukh, Moat Stuart.