Garcia-Cazorla A - Search Results

1

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R. Navarro-Sastre A, et al. Am J Hum Genet. 2011 Nov 11;89(5):656-67. doi: 10.1016/j.ajhg.2011.10.005. Am J Hum Genet. 2011. PMID: 22077971 Free PMC article.

2

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. 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

3

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

4

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

5

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

6

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

7

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.

Montero R, Sánchez-Alcázar JA, Briones P, Navarro-Sastre A, Gallardo E, Bornstein B, Herrero-Martín D, Rivera H, Martin MA, Marti R, García-Cazorla A, Montoya J, Navas P, Artuch R. Montero R, et al. Clin Biochem. 2009 May;42(7-8):742-5. doi: 10.1016/j.clinbiochem.2008.10.027. Epub 2008 Dec 3. Clin Biochem. 2009. PMID: 19094978

8

Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging.

Pérez-Dueñas B, De La Osa A, Capdevila A, Navarro-Sastre A, Leist A, Ribes A, García-Cazorla A, Serrano M, Pineda M, Campistol J. Pérez-Dueñas B, et al. Eur J Paediatr Neurol. 2009 Nov;13(6):534-40. doi: 10.1016/j.ejpn.2008.12.002. Epub 2009 Jan 22. Eur J Paediatr Neurol. 2009. PMID: 19167251

9

Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I.

Cerisola A, Campistol J, Pérez-Dueñas B, Poo P, Pineda M, García-Cazorla A, Sanmartí FX, Ribes A, Vilaseca MA. Cerisola A, et al. Pediatr Neurol. 2009 Jun;40(6):426-31. doi: 10.1016/j.pediatrneurol.2008.12.009. Pediatr Neurol. 2009. PMID: 19433275

10

Cerebellar hemorrhage in a patient with propionic acidemia.

Velasco-Sánchez D, Gómez-Lopez L, Vilaseca MA, Serrano M, Massaguer S, Campistol J, García-Cazorla A. Velasco-Sánchez D, et al. Cerebellum. 2009 Sep;8(3):352-4. doi: 10.1007/s12311-009-0103-y. Epub 2009 May 26. Cerebellum. 2009. PMID: 19468795

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