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Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M, Molero-Luis M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol J, Ormazabal A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E, Artuch R. Batllori M, et al. Among authors: domingo r. Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8. Sci Rep. 2017. PMID: 29116116 Free PMC article.
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, García-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JLK, Ugarte M, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P. Bravo-Alonso I, et al. Among authors: domingo r. Hum Mutat. 2017 Jun;38(6):678-691. doi: 10.1002/humu.23208. Epub 2017 Mar 20. Hum Mutat. 2017. PMID: 28244183
[Rett's syndrome in the Spanish population].
Pineda M, Aracil A, Vernet A, Espada M, Cobo E, Arteaga R, Artigas J, Barrionuevo C, Bautista-González L, Berenguer-Molla R, Caballero J, Cabrera J, Campistol J, Campos J, Casas-Fernández C, Castelló M, Castro-Gago M, Castroviejo P, Colomer J, Delgado P, Domingo R, Domínguez-Jiménez A, Fernández-Alvarez E, García-Aymerich J, Vidal R, et al. Pineda M, et al. Among authors: domingo r. Rev Neurol. 1999 Jan 1-15;28(1):105-9. Rev Neurol. 1999. PMID: 10101777 Review. Spanish.
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series.
Pineda M, Perez-Poyato MS, O'Callaghan M, Vilaseca MA, Pocovi M, Domingo R, Portal LR, Pérez AV, Temudo T, Gaspar A, Peñas JJ, Roldán S, Fumero LM, de la Barca OB, Silva MT, Macías-Vidal J, Coll MJ. Pineda M, et al. Among authors: domingo r. Mol Genet Metab. 2010 Apr;99(4):358-66. doi: 10.1016/j.ymgme.2009.11.007. Epub 2009 Nov 29. Mol Genet Metab. 2010. PMID: 20056559
174 results