Title |
Newborn screening for homocystinurias: Recent recommendations versus current practice
|
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Published in |
Journal of Inherited Metabolic Disease, February 2019
|
DOI | 10.1002/jimd.12034 |
Pubmed ID | |
Authors |
Rebecca Keller, Petr Chrastina, Markéta Pavlíková, Sofía Gouveia, Antonia Ribes, Stefan Kölker, Henk J. Blom, Matthias R. Baumgartner, Josef Bártl, Carlo Dionisi‐Vici, Florian Gleich, Andrew A. Morris, Viktor Kožich, Martina Huemer, and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects, Ivo Barić, Tawfeq Ben‐Omran, Javier Blasco‐Alonso, Maria A. Bueno Delgado, Claudia Carducci, Michela Cassanello, Roberto Cerone, Maria Luz Couce, Ellen Crushell, Carmen Delgado Pecellin, Elena Dulin, Mercedes Espada, Giulio Ferino, Ralph Fingerhut, Immaculada Garcia Jimenez, Immaculada Gonzalez Gallego, Yolanda González‐Irazabal, Gwendolyn Gramer, Maria Jesus Juan Fita, Eszter Karg, Jeanette Klein, Vassiliki Konstantopoulou, Giancarlo la Marca, Elisa Leão Teles, Vincenzo Leuzzi, Franco Lilliu, Rosa Maria Lopez, Allan M. Lund, Philip Mayne, Silvia Meavilla, Stuart J. Moat, Jürgen G. Okun, Elisabeta Pasquini, Consuélo Carmen Pedron‐Giner, Gabor Zoltan Racz, Maria Angeles Ruiz Gomez, Laura Vilarinho, Raquel Yahyaoui, Moja Zerjav Tansek, Rolf H. Zetterström, Maximilian Zeyda |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Ireland | 3 | 21% |
Spain | 2 | 14% |
United States | 2 | 14% |
Switzerland | 1 | 7% |
Unknown | 6 | 43% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 8 | 57% |
Practitioners (doctors, other healthcare professionals) | 4 | 29% |
Science communicators (journalists, bloggers, editors) | 2 | 14% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 55 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 7 | 13% |
Other | 5 | 9% |
Researcher | 5 | 9% |
Student > Bachelor | 4 | 7% |
Student > Master | 4 | 7% |
Other | 6 | 11% |
Unknown | 24 | 44% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 14 | 25% |
Pharmacology, Toxicology and Pharmaceutical Science | 3 | 5% |
Psychology | 3 | 5% |
Agricultural and Biological Sciences | 3 | 5% |
Biochemistry, Genetics and Molecular Biology | 2 | 4% |
Other | 6 | 11% |
Unknown | 24 | 44% |