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Page 1
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium; Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J. Huemer M, et al. Among authors: dalmau serra j. J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17. J Inherit Metab Dis. 2019. PMID: 30773687
[Epidemiological study of the metabolic diseases with homocystinuria in Spain].
García-Jiménez MC, Baldellou A, García-Silva MT, Dalmau-Serra J, García-Cazorla A, Gómez-López L, Giner CP, Luengo OA, Peña Quintana L, Couce ML, Martínez-Pardo M, Lambruschini N. García-Jiménez MC, et al. Among authors: dalmau serra j. An Pediatr (Barc). 2012 Mar;76(3):133-9. doi: 10.1016/j.anpedi.2011.08.008. Epub 2011 Nov 1. An Pediatr (Barc). 2012. PMID: 22047794 Free article. Spanish.
[Xanthomas in an infant].
Carmona Cedrés N, Vitoria Miñana I, Dalmau Serra J. Carmona Cedrés N, et al. Among authors: dalmau serra j. An Pediatr (Barc). 2009 Jun;70(6):594-5. doi: 10.1016/j.anpedi.2008.12.003. Epub 2009 Apr 16. An Pediatr (Barc). 2009. PMID: 19372067 Free article. Spanish. No abstract available.
41 results