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[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene].
Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Merinero B, Alcaide P, Capdevila A, Ribes A, Duque R, Eirís J, Poo P, Fernández-Alvarez E, Campistol J, Artuch R. Sempere A, et al. Med Clin (Barc). 2009 Nov 21;133(19):745-9. doi: 10.1016/j.medcli.2009.06.065. Epub 2009 Nov 5. Med Clin (Barc). 2009. PMID: 19892372 Spanish.
[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. Med Clin (Barc). 2006 Jun 17;127(3):81-5. doi: 10.1157/13090262. Med Clin (Barc). 2006. PMID: 16827996 Spanish.
[Inborn errors of neurotransmitters in neuropaediatrics].
García-Cazorla A, Ormazábal A, Artuch R, Pérez-Dueñas B, López-Casas J, Fernández-Alvarez E, Campistol J. García-Cazorla A, et al. Rev Neurol. 2005 Jul 16-31;41(2):99-108. Rev Neurol. 2005. PMID: 16028189 Free article. Review. Spanish.
Characterization of tremor in phenylketonuric patients.
Pérez-Dueñas B, Valls-Solé J, Fernández-Alvarez E, Conill J, Vilaseca MA, Artuch R, Campistol J. Pérez-Dueñas B, et al. J Neurol. 2005 Nov;252(11):1328-34. doi: 10.1007/s00415-005-0860-6. Epub 2005 Jul 5. J Neurol. 2005. PMID: 15995796
129 results