Garcia-Cazorla À - Search Results

1

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group. Vidal S, et al. Sci Rep. 2021 Sep 7;11(1):18146. doi: 10.1038/s41598-021-97262-y. Sci Rep. 2021. PMID: 34493777 Free PMC article. No abstract available.

2

White matter alterations associated with chromosomal disorders.

García-Cazorla A, Sans A, Baquero M, García-Bargo MD, Arellano M, Poo P, Gean E, Campistol J. García-Cazorla A, et al. Dev Med Child Neurol. 2004 Mar;46(3):148-53. doi: 10.1017/s0012162204000271. Dev Med Child Neurol. 2004. PMID: 14995083 Free article.

3

Infectious acute hemicerebellitis.

García-Cazorla A, Oliván JA, Pancho C, Sans A, Boix C, Campistol J. García-Cazorla A, et al. J Child Neurol. 2004 May;19(5):390-2. doi: 10.1177/088307380401900514. J Child Neurol. 2004. PMID: 15224713 Review.

4

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

5

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

6

[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.

7

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

8

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

9

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

10

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

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