Newborn screening for homocystinurias: recent recommendations versus current practice

Purpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Methods: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with...

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Detalhes bibliográficos
Autor principal: Keller, Rebecca (author)
Outros Autores: Chrastina, Petr (author), Pavlíková, Markéta (author), Gouveia, Sofía (author), Ribes, Antonia (author), Kölker, Stefan (author), Blom, Henk J. (author), Baumgartner, Matthias R. (author), Bártl, Josef (author), Dionisi-Vici, Carlo (author), Gleich, Florian (author), Morris, Andrew A. (author), Kožich, Viktor (author), Huemer, Martina (author), Barić, Ivo (author), Ben-Omran, Tawfeq (author), Blasco-Alonso, Javier (author), Bueno Delgado, Maria A. (author), Carducci, Claudia (author), Cassanello, Michela (author), Cerone, Roberto (author), Couce, Maria Luz (author), Crushell, Ellen (author), Delgado Pecellin, Carmen (author), Dulin, Elena (author), Espada, Mercedes (author), Ferino, Giulio (author), Fingerhut, Ralph (author), Garcia Jimenez, Immaculada (author), Gonzalez Gallego, Immaculada (author), González-Irazabal, Yolanda (author), Gramer, Gwendolyn (author), Juan Fita, Maria Jesus (author), Karg, Eszter (author), Klein, Jeanette (author), Konstantopoulou, Vassiliki (author), la Marca, Giancarlo (author), Leão Teles, Elisa (author), Leuzzi, Vincenzo (author), Lilliu, Franco (author), Lopez, Rosa Maria (author), Lund, Allan M. (author), Mayne, Philip (author), Meavilla, Silvia (author), Moat, Stuart J. (author), Okun, Jürgen G. (author), Pasquini, Elisabeta (author), Pedron-Giner, Consuélo Carmen (author), Racz, Gabor Zoltan (author), Ruiz Gomez, Maria Angeles (author), Vilarinho, Laura (author), Yahyaoui, Raquel (author), Zerjav Tansek, Moja (author), Zetterström, Rolf H. (author), Zeyda, Maximilian (author)
Formato: article
Idioma:eng
Publicado em: 2019
Assuntos:
Texto completo:http://hdl.handle.net/10400.18/6274
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6274