García-Cazorla À - Search Results

1

iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation.

Tristán-Noguero A, Fernández-Carasa I, Calatayud C, Bermejo-Casadesús C, Pons-Espinal M, Colini Baldeschi A, Campa L, Artigas F, Bortolozzi A, Domingo-Jiménez R, Ibáñez S, Pineda M, Artuch R, Raya Á, García-Cazorla À, Consiglio A. Tristán-Noguero A, et al. EMBO Mol Med. 2023 Mar 8;15(3):e15847. doi: 10.15252/emmm.202215847. Epub 2023 Feb 6. EMBO Mol Med. 2023. PMID: 36740977 Free PMC article.

2

HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins.

Ormazabal A, García-Cazorla A, Fernández Y, Fernández-Alvarez E, Campistol J, Artuch R. Ormazabal A, et al. J Neurosci Methods. 2005 Mar 15;142(1):153-8. doi: 10.1016/j.jneumeth.2004.08.007. J Neurosci Methods. 2005. PMID: 15652629

3

Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.

Ormazabal A, García-Cazorla A, Pérez-Dueñas B, Gonzalez V, Fernández-Alvarez E, Pineda M, Campistol J, Artuch R. Ormazabal A, et al. Clin Chim Acta. 2006 Sep;371(1-2):159-62. doi: 10.1016/j.cca.2006.03.004. Epub 2006 Apr 19. Clin Chim Acta. 2006. PMID: 16624264

4

[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.

5

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency.

Serrano M, Lizarraga I, Reiss J, Dias AP, Pérez-Dueñas B, Vilaseca MA, Artuch R, Campistol J, García-Cazorla A. Serrano M, et al. Pediatr Radiol. 2007 Oct;37(10):1043-6. doi: 10.1007/s00247-007-0558-2. Epub 2007 Aug 18. Pediatr Radiol. 2007. PMID: 17704913

6

Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies.

Duarte S, Sanmarti F, Gonzalez V, Perez Duenas B, Ormazabal A, Artuch R, Campistol J, Garcia-Cazorla A. Duarte S, et al. Brain Dev. 2008 Feb;30(2):106-11. doi: 10.1016/j.braindev.2007.06.009. Epub 2007 Aug 21. Brain Dev. 2008. PMID: 17714901

7

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.

Ormazabal A, Oppenheim M, Serrano M, García-Cazorla A, Campistol J, Ribes A, Ruiz A, Moreno J, Hyland K, Clayton P, Heales S, Artuch R. Ormazabal A, et al. Mol Genet Metab. 2008 Jun;94(2):173-7. doi: 10.1016/j.ymgme.2008.01.004. Epub 2008 Feb 21. Mol Genet Metab. 2008. PMID: 18294893

8

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes.

Montero R, Sánchez-Alcázar JA, Briones P, Hernández AR, Cordero MD, Trevisson E, Salviati L, Pineda M, García-Cazorla A, Navas P, Artuch R. Montero R, et al. Clin Biochem. 2008 Jun;41(9):697-700. doi: 10.1016/j.clinbiochem.2008.03.007. Epub 2008 Mar 20. Clin Biochem. 2008. PMID: 18387363

9

Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks.

Serrano M, Pérez-Dueñas B, Ormazábal A, Artuch R, Campistol J, Torres RJ, García-Cazorla A. Serrano M, et al. Mov Disord. 2008 Jul 15;23(9):1297-300. doi: 10.1002/mds.21786. Mov Disord. 2008. PMID: 18528895

10

Mitochondrial diseases mimicking neurotransmitter defects.

Garcia-Cazorla A, Duarte S, Serrano M, Nascimento A, Ormazabal A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M, Artuch R. Garcia-Cazorla A, et al. Mitochondrion. 2008 Jun;8(3):273-8. doi: 10.1016/j.mito.2008.05.001. Epub 2008 May 21. Mitochondrion. 2008. PMID: 18558519

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