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Analysis of Synaptic Proteins in the Cerebrospinal Fluid as a New Tool in the S...
Duarte, S; Ortez, C; Pérez, A; Artuch, R; García-Cazorla, AAbstract In a few rare diseases, specialised studies in cerebrospinal fluid (CSF) are required to identify the underlying metabolic disorder. We aimed to explore the possibility of detecting key synaptic proteins in the CSF, in particular dopaminergic and gabaergic, as new procedures that could be useful for both pathophysiological and diagnostic purposes in investigation of inherited disorders of neurotransmis...
Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate defici...
Ramaekers, V.T.; Sequeira, J.M.; Artuch, R.; Blau, N.; Temudo, T.; Ormazabal, A.; Pineda, M.; Aracil, A.; Roelens, F.; Laccone, F.; Quadros, E.V.Neuropediatrics. 2007 Aug;38(4):179-83. Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome. Ramaekers VT, Sequeira JM, Artuch R, Blau N, Temudo T, Ormazabal A, Pineda M, Aracil A, Roelens F, Laccone F, Quadros EV. Division of Pediatric Neurology, University Hospital Aachen, Germany. vramaekers@skynet.be Abstract Rett syndrome was associated with low cerebrospina...
Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmi...
ORMAZABAL, A.; GARCÍA CAZORLA, A.; PÉREZ DUEÑAS, B.; PINEDA, M.; RUIZ, A.; LÓPEZ LASO, E.; GARCÍA SILVA, M.; CARILHO, I.; BARBOT, C.; CORMAND, B.Med Clin (Barc). 2006 Jun 17;127(3):81-5. [Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier] [Article in Spanish] 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, C...
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