García-Cazorla À - Search Results

1

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

García-Cazorla À, Verdura E, Juliá-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH; SHMT2 Working Group; Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A. García-Cazorla À, et al. Acta Neuropathol. 2020 Dec;140(6):971-975. doi: 10.1007/s00401-020-02223-w. Epub 2020 Oct 5. Acta Neuropathol. 2020. PMID: 33015733 Free PMC article. No abstract available.

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

Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment.

Pancho C, Garcia-Cazorla A, Varea V, Artuch R, Ferrer I, Vilaseca MA, Briones P, Campistol J. Pancho C, et al. J Pediatr Gastroenterol Nutr. 2005 Feb;40(2):230-2. doi: 10.1097/00005176-200502000-00030. J Pediatr Gastroenterol Nutr. 2005. PMID: 15699704 No abstract available.

4

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

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].

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.

6

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

7

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

8

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

9

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

10

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

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