1
TITLE: Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
AUTHORS: Loeber, JG; Platis, D; Zetterstrom, RH; Almashanu, S; Boemer, F; Bonham, JR; Borde, P; Brincat, I; Cheillan, D; Dekkers, E; Dimitrov, D; Fingerhut, R; Franzson, L; Groselj, U; Hougaard, D; Knapkova, M; Kocova, M; Kotori, V; Kozich, V; Kremezna, A; Kurkijarvi, R; La Marca, G; Mikelsaar, R; Milenkovic, T; Mitkin, V; Moldovanu, F; Ceglarek, U; O'Grady, L; Oltarzewski, M; Pettersen, RD; Ramadza, D; Salimbayeva, D; Samardzic, M; Shamsiddinova, M; Songailiene, J; Szatmari, I; Tabatadze, N; Tezel, B; Toromanovic, A; Tovmasyan, I; Usurelu, N; Vevere, P; Vilarinho, L; Vogazianos, M; Yahyaoui, R; Zeyda, M; Schielen, PCJI; ...More
PUBLISHED: 2021, SOURCE: INTERNATIONAL JOURNAL OF NEONATAL SCREENING, VOLUME: 7, ISSUE: 1
INDEXED IN: WOS
2
TITLE: Regulatory landscape of providing information on newborn screening to parents across Europe  Full Text
AUTHORS: Frankova, V; Driscoll, RO; Jansen, ME; Loeber, JG; Kozich, V; Bonham, J; Borde, P; Brincat, I; Cheillan, D; Dekkers, E; Fingerhut, R; Kus, IB; Girginoudis, P; Groselj, U; Hougaard, D; Knapkova, M; la Marca, G; Malniece, I; Nanu, MI; Nennstiel, U; Olkhovych, N; Oltarzewski, M; Pettersen, RD; Racz, G; Reinson, K; Salimbayeva, D; Songailiene, J; Vilarinho, L; Vogazianos, M; Zetterstrom, RH; Zeyda, M; ...More
PUBLISHED: 2021, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 29, ISSUE: 1
INDEXED IN: WOS
3
TITLE: Regulatory landscape of providing information on newborn screening to parents across Europe
AUTHORS: Vera Frankova; Riona O Driscoll; Marleen E Jansen; Gerard G Loeber; Viktor Kozich; James Bonham; Patricia Borde; Ian Brincat; David Cheillan; Eugenie Dekkers; Ralph Fingerhut; Iva Bilandzija Kus; Panagiotis Girginoudis; Urh Groselj; David Hougaard; Maria Knapkova; Giancarlo la Marca; Ieva Malniece; Michaela Iuliana Nanu; Uta Nennstiel; Nataliia Olkhovych; Mariusz Oltarzewski; Rolf D Pettersen; Gabor Racz; Karit Reinson; Damilya Salimbayeva; Jurgita Songailiene; Laura Vilarinho; Marios Vogazianos; Rolf H Zetterstrom; Maximilian Zeyda; ...More
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
INDEXED IN: WOS
4
TITLE: Newborn screening for homocystinurias: Recent recommendations versus current practice  Full Text
AUTHORS: Rebecca Keller; Petr Chrastina; Marketa Pavlikova; Sofia Gouveia; Antonia Ribes; Stefan Koelker; Henk J Blom; Matthias R Baumgartner; Josef Bartl; Carlo Dionisi Vici; Florian Gleich; Andrew A Morris; Viktor Kozich; Martina Huemer; Ivo Baric; Tawfeq Ben Omran; Javier Blasco Alonso; Maria A Bueno Delgado; Claudia Carducci; Michela Cassanello; Roberto Cerone; Maria L Luz Couce; Ellen Crushell; Carmen D Delgado Pecellin; Elena Dulin; Mercedes Espada; Giulio Ferino; Ralph Fingerhut; Immaculada G Garcia Jimenez; Immaculada G Gonzalez Gallego; Yolanda Gonzalez Irazabal; Gwendolyn Gramer; Maria Jesus J Juan Fita; Eszter Karg; Jeanette Klein; Vassiliki Konstantopoulou; Giancarlo la Marca; Elisa Leao Teles; Vincenzo Leuzzi; Franco Lilliu; Rosa M Maria Lopez; Allan M Lund; Philip Mayne; Silvia Meavilla; Stuart J Moat; Juergen G Okun; Elisabeta Pasquini; Consuelo C Carmen Pedron Giner; Gabor Zoltan Racz; Maria Angeles R Ruiz Gomez; Laura Vilarinho; Raquel Yahyaoui; Moja Zerjav Tansek; Rolf H Zetterstrom; Maximilian Zeyda; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1
INDEXED IN: Scopus WOS
5
TITLE: Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency  Full Text
AUTHORS: Andrew A M Morris; Viktor Kozich; Saikat Santra; Generoso Andria; Tawfeg I M Ben Omran; Anupam B Chakrapani; Ellen Crushell; Mick J Henderson; Michel Hochuli; Martina Huemer; Miriam C H Janssen; Francois Maillot; Philip D Mayne; Jenny McNulty; Tara M Morrison; Helene Ogier; Siobhan O'Sullivan; Marketa Pavlikova; Isabel Tavares de Almeida; Allyson Terry; Sufin Yap; Henk J Blom; Kimberly A Chapman; ...More
PUBLISHED: 2017, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 40, ISSUE: 1
INDEXED IN: WOS