Authors: Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J.; Baumgartner, Matthias R.; Bártl, Josef; Dionisi-Vici, Carlo; Gleich, Florian; Morris, Andrew A.; Kožich, Viktor; Huemer, Martina; Barić, Ivo; Ben-Omran, Tawfeq; Blasco-Alonso, Javier; Bueno Delgado, Maria A.; Carducci, Claudia; Cassanello, Michela; Cerone, Roberto; Couce, Maria Luz; Crushell, Ellen; Delgado Pecellin, Carmen; Dulin, Elena; Espada, Mercedes; Ferino, Giulio; Fingerhut, Ralph; Garcia Jimenez, Immaculada; Gonzalez Gallego, Immaculada; González-Irazabal, Yolanda; Gramer, Gwendolyn; Juan Fita, Maria Jesus; Karg, Eszter; Klein, Jeanette; Konstantopoulou, Vassiliki; la Marca, Giancarlo; Leão Teles, Elisa; Leuzzi, Vincenzo; Lilliu, Franco; Lopez, Rosa Maria; Lund, Allan M.; Mayne, Philip; Meavilla, Silvia; Moat, Stuart J.; Okun, J. rgen G.; Pasquini, Elisabeta; Pedron-Giner, Consuélo Carmen; Racz, Gabor Zoltan; Ruiz Gomez, Maria Angeles; Vilarinho, Laura; Yahyaoui, Raquel; Zerjav Tansek, Moja; Zetterström, Rolf H.; Zeyda, Maximilian

Venue: Journal of Inherited Metabolic Disease

Type: Publication

Abstract: AbstractPurposeTo assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations.MethodsTwenty‐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 methylenetetrahydr... (read more)

Impact:   2.2324436E-8    4.8908038E-9    42    31  / Attention: 0 37

DOI: 10.1002/jimd.12034