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First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).
Alcalde-Martín C, Muro-Tudelilla JM, Cancho-Candela R, Gutiérrez-Solana LG, Pintos-Morell G, Martí-Herrero M, Munguira-Aguado P, Galán-Gómez E. Alcalde-Martín C, et al. Eur J Med Genet. 2010 Nov-Dec;53(6):371-7. doi: 10.1016/j.ejmg.2010.07.013. Epub 2010 Aug 10. Eur J Med Genet. 2010. PMID: 20709629
Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome.
Galán-Gómez E, Guerrero-Rico A, Cáceres-Marzal C, Zambrano-Castaño M, Moreno-Tejero ML, Grande-Tejada AM, Fernández-Hernández S, Vaquerizo-Madrid J, Cardesa-García JJ. Galán-Gómez E, et al. Eur J Med Genet. 2008 May-Jun;51(3):268-71. doi: 10.1016/j.ejmg.2008.02.005. Epub 2008 Mar 4. Eur J Med Genet. 2008. PMID: 18396123
Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.
Galán-Gómez E, Cardesa-García JJ, Campo-Sampedro FM, Salamanca-Maesso C, Martínez-Frías ML, Frías JL. Galán-Gómez E, et al. Am J Med Genet. 1995 Nov 20;59(3):276-82. doi: 10.1002/ajmg.1320590303. Am J Med Genet. 1995. PMID: 8599349 Review.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
[Meckel-Gruber syndrome. Report of a new case].
Romero Vivas F, Galán Gómez E, Cardesa García JJ, Cabáñez Andrés JA, Cabezas Segurado F, Pimentel Leo JJ. Romero Vivas F, et al. An Esp Pediatr. 1990 Dec;33(6):586-8. An Esp Pediatr. 1990. PMID: 2078008 Spanish. No abstract available.
[Joubert syndrome without mental retardation].
Vaquerizo Madrid J, Galán Gómez E, Hernández Rastrollo R, Cardesa García JJ. Vaquerizo Madrid J, et al. An Esp Pediatr. 1993 Nov;39(5):455-6. An Esp Pediatr. 1993. PMID: 8285466 Spanish. No abstract available.
42 results