학술논문
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Document Type
Article
Author
Huemer, M.; Froese, D.S.; Baumgartner, M.R.; Diodato, D.; Martinelli, D.; Olivieri, G.; Dionisi-Vici, C.; Blom, H.; Gleich, F.; Kölker, S.; Boy, N.; Kožich, V.; Jesina, P.; Morris, A.A.; Walter, J.; Seifert, B.; Martin, C.A.; Baethmann, M.; Ballhausen, D.; Tran, C.; Blasco-Alonso, J.; Bueno, M.; Burgos Peláez, R.; Cerone, R.; Chabrol, B.; Chapman, K.A.; Couce, M.L.; Gouveia, S.; Crushell, E.; Dalmau Serra, J.; Diogo, L.; Ficicioglu, C.; García Jimenez, M.C.; García Silva, M.T.; Gaspar, A.M.; Gautschi, M.; González-Lamuño, D.; Grünewald, S.; Hendriksz, C.; Janssen, M.C.H.; Koch, J.; Konstantopoulou, V.; Lavigne, C.; Lund, A.M.; Martins, E.G.; Meavilla Olivas, S.; Mention, K.; Mochel, F.; Mundy, H.; Murphy, E.; Paquay, S.; Pedrón-Giner, C.; Ruiz Gómez, M.A.; Santra, S.; Schiff, M.; Schwartz, I.V.; Scholl-Bürgi, S.; Servais, A.; Skouma, A.; Vives Piñera, I.; Weisfeld-Adams, J.
Source
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, March 2019, 42(2):333-352)
Subject
Language
English
ISSN
15732665
01418955
01418955