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[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier].
Ormazabal A, García Cazorla A, Pérez Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández Alvarez E, Campistol J, Artuch R. Ormazabal A, et al. Among authors: cormand b. Med Clin (Barc). 2006 Jun 17;127(3):81-5. doi: 10.1157/13090262. Med Clin (Barc). 2006. PMID: 16827996 Spanish.
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.
Ribasés M, Serrano M, Fernández-Alvarez E, Pahisa S, Ormazabal A, García-Cazorla A, Pérez-Dueñas B, Campistol J, Artuch R, Cormand B. Ribasés M, et al. Among authors: cormand b. Mol Genet Metab. 2007 Nov;92(3):274-7. doi: 10.1016/j.ymgme.2007.07.004. Epub 2007 Aug 14. Mol Genet Metab. 2007. PMID: 17698383
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: cormand b. 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
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype.
Ormazabal A, Serrano M, Garcia-Cazorla A, Campistol J, Artuch R, Castro de Castro P, Barredo-Valderrama E, Armstrong J, Toma C, Cormand B. Ormazabal A, et al. Among authors: cormand b. Mov Disord. 2011 Jul;26(8):1558-60. doi: 10.1002/mds.23564. Epub 2011 Apr 4. Mov Disord. 2011. PMID: 21465550 No abstract available.
Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.
Toma C, Hervás A, Torrico B, Balmaña N, Salgado M, Maristany M, Vilella E, Martínez-Leal R, Planelles MI, Cuscó I, del Campo M, Pérez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Pérez-Costillas L, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B. Toma C, et al. Among authors: cormand b. Psychiatr Genet. 2013 Apr;23(2):82-5. doi: 10.1097/YPG.0b013e32835d6fc6. Psychiatr Genet. 2013. PMID: 23277129
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency.
Pons R, Syrengelas D, Youroukos S, Orfanou I, Dinopoulos A, Cormand B, Ormazabal A, Garzía-Cazorla A, Serrano M, Artuch R. Pons R, et al. Among authors: cormand b. Mov Disord. 2013 Jul;28(8):1058-63. doi: 10.1002/mds.25382. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23389938
202 results