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Neuropsychiatric manifestations in late-onset urea cycle disorder patients.
Serrano M, Martins C, Pérez-Dueñas B, Gómez-López L, Murgui E, Fons C, García-Cazorla A, Artuch R, Jara F, Arranz JA, Häberle J, Briones P, Campistol J, Pineda M, Vilaseca MA. Serrano M, et al. Among authors: fons c. J Child Neurol. 2010 Mar;25(3):352-8. doi: 10.1177/0883073809340696. Epub 2009 Aug 14. J Child Neurol. 2010. PMID: 19684305
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.
De Grandis E, Serrano M, Pérez-Dueñas B, Ormazábal A, Montero R, Veneselli E, Pineda M, González V, Sanmartí F, Fons C, Sans A, Cormand B, Puelles L, Alonso A, Campistol J, Artuch R, García-Cazorla A. De Grandis E, et al. Among authors: fons c. J Inherit Metab Dis. 2010 Dec;33(6):803-9. doi: 10.1007/s10545-010-9200-9. Epub 2010 Sep 18. J Inherit Metab Dis. 2010. PMID: 20852934
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B. Serrano M, et al. Among authors: fons c. Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y. Orphanet J Rare Dis. 2015. PMID: 26502900 Free PMC article.
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.
Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons C, Armstrong J, Barrios D, Díaz-Flores F, Tirado P, Couce ML, Gutiérrez-Solana LG. Hortigüela M, et al. Among authors: fons c. J Hum Genet. 2017 Feb;62(2):185-189. doi: 10.1038/jhg.2016.104. Epub 2016 Aug 18. J Hum Genet. 2017. PMID: 27535030
Creatine Defects and Central Nervous System.
Fons C, Campistol J. Fons C, et al. Semin Pediatr Neurol. 2016 Nov;23(4):285-289. doi: 10.1016/j.spen.2016.11.003. Epub 2016 Nov 17. Semin Pediatr Neurol. 2016. PMID: 28284390 Review.
71 results