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Page 1
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. Friedman J, et al. Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685. Ann Neurol. 2012. PMID: 22522443
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. Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8. Sci Rep. 2017. PMID: 29116116 Free PMC article.
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
Pérez B, Gutiérrez-Solana LG, Verdú A, Merinero B, Yuste-Checa P, Ruiz-Sala P, Calvo R, Jalan A, Marín LL, Campos O, Ruiz MÁ, San Miguel M, Vázquez M, Castro M, Ferrer I, Navarrete R, Desviat LR, Lapunzina P, Ugarte M, Pérez-Cerdá C. Pérez B, et al. Epilepsia. 2013 Feb;54(2):239-48. doi: 10.1111/epi.12083. Epub 2013 Jan 25. Epilepsia. 2013. PMID: 23350806 Free article.
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R. Navarro-Sastre A, et al. Am J Hum Genet. 2011 Nov 11;89(5):656-67. doi: 10.1016/j.ajhg.2011.10.005. Am J Hum Genet. 2011. PMID: 22077971 Free PMC article.
Vanishing white matter disease in a spanish population.
Turón-Viñas E, Pineda M, Cusí V, López-Laso E, Del Pozo RL, Gutiérrez-Solana LG, Moreno DC, Sierra-Córcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodríguez J, González-Álvarez V, O'Callaghan M, Muchart J, Armstrong-Moron J. Turón-Viñas E, et al. J Cent Nerv Syst Dis. 2014 Jul 13;6:59-68. doi: 10.4137/JCNSD.S13540. eCollection 2014. J Cent Nerv Syst Dis. 2014. PMID: 25089094 Free PMC article. Review.
74 results