Authors: R. Keller, Petr Chrastina, Marketa Pavlikova, Sofía Gouveia, Antonia Ribes, Stefan Kölker, Henk J. Blom, Matthias R. Baumgartner, Josef Bartl, C. Dionisi Vici, Florian Gleich, Andrew A. M. Morris, Viktor Kožich, Martina Huemer, Ivo Barić, Tawfeg Ben-Omran, Javier Blasco-Alonso, M. A. Bueno Delgado, Claudia Carducci, M. Cassanello, Roberto Cerone, María L. Couce, Ellen Crushell, C. Delgado Pecellin, Elena Dulín, Mercedes Espada, G. Ferino, Ralph Fingerhut, I. Garcia Jimenez, I. Gonzalez Gallego, Y. González-Irazabal, Gwendolyn Gramer, M. J. Juan Fita, Eszter Karg, Jeannette Klein, Vassiliki Konstantopoulou, G. la Marca, E. Leão Teles, Vincenzo Leuzzi, F. Lilliu, R. M. Lopez, Allan M. Lund, Philip Mayne, Silvia Meavilla, Stuart J. Moat, Jürgen G. Okun, Elisabetta Pasquini, C. Pedrón-Giner, Gábor Rácz, M. A. Ruiz Gomez, Laura Vilarinho, Raquel Yahyaoui, M. Zerjav Tansek, Rolf Zetterström, Maximilian Zeyda
Venue: Journal of Inherited Metabolic Disease
Type: Publication
Abstract: 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 cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate...
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Topics: 
Pediatrics
Internal medicine
DOI:
10.1002/jimd.12034
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