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[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: arteaga r. Rev Neurol. 1999 Jan 1-15;28(1):105-9. Rev Neurol. 1999. PMID: 10101777 Review. Spanish.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Busquets C, Merinero B, Christensen E, Gelpí JL, Campistol J, Pineda M, Fernández-Alvarez E, Prats JM, Sans A, Arteaga R, Martí M, Campos J, Martínez-Pardo M, Martínez-Bermejo A, Ruiz-Falcó ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A. Busquets C, et al. Among authors: arteaga r. Pediatr Res. 2000 Sep;48(3):315-22. doi: 10.1203/00006450-200009000-00009. Pediatr Res. 2000. PMID: 10960496
77 results