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White matter microstructural damage in early treated phenylketonuric patients.

González MJ, Polo MR, Ripollés P, Gassió R, Ormazabal A, Sierra C, Roura RC, Artuch R, Campistol J.

Orphanet J Rare Dis. 2018 Oct 26;13(1):188. doi: 10.1186/s13023-018-0912-5.


Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

Batllori M, Molero-Luis M, Ormazabal A, Montero R, Sierra C, Ribes A, Montoya J, Ruiz-Pesini E, O'Callaghan M, Pias L, Nascimento A, Palau F, Armstrong J, Yubero D, Ortigoza-Escobar JD, García-Cazorla A, Artuch R.

J Inherit Metab Dis. 2018 Jul 4. doi: 10.1007/s10545-018-0224-x. [Epub ahead of print]


Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids.

Vilches C, Boiadjieva-Knöpfel E, Bodoy S, Camargo S, López de Heredia M, Prat E, Ormazabal A, Artuch R, Zorzano A, Verrey F, Nunes V, Palacín M.

J Am Soc Nephrol. 2018 Jun;29(6):1624-1635. doi: 10.1681/ASN.2017111205. Epub 2018 Apr 2.


Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.

Batllori M, Molero-Luis M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol J, Ormazabal A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E, Artuch R.

Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8.


Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.

Batllori M, Molero-Luis M, Ormazabal A, Casado M, Sierra C, García-Cazorla A, Kurian M, Pope S, Heales SJ, Artuch R.

Nat Protoc. 2017 Nov;12(11):2359-2375. doi: 10.1038/nprot.2017.103. Epub 2017 Oct 19.


Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.

Díez H, Cortès-Saladelafont E, Ormazábal A, Marmiese AF, Armstrong J, Matalonga L, Bravo M, Briones P, Emperador S, Montoya J, Artuch R, Giros M, Garcia-Cazorla À.

Mov Disord. 2017 Jul;32(7):1108-1110. doi: 10.1002/mds.27021. Epub 2017 Apr 24. No abstract available.


Biochemical Analyses of Cerebrospinal Fluid for the Diagnosis of Neurometabolic Conditions. What Can We Expect?

Batllori M, Molero-Luis M, Casado M, Sierra C, Artuch R, Ormazabal A.

Semin Pediatr Neurol. 2016 Nov;23(4):273-284. doi: 10.1016/j.spen.2016.11.002. Epub 2016 Nov 9. Review.


Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Ponce EC, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á.

Orphanet J Rare Dis. 2016 Nov 3;11(1):147. No abstract available.


Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Yubero D, Brandi N, Ormazabal A, Garcia-Cazorla À, Pérez-Dueñas B, Campistol J, Ribes A, Palau F, Artuch R, Armstrong J; Working Group.

PLoS One. 2016 May 31;11(5):e0156359. doi: 10.1371/journal.pone.0156359. eCollection 2016.


Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á.

Orphanet J Rare Dis. 2015 Dec 30;10:164. doi: 10.1186/s13023-015-0376-9. Review. Erratum in: Orphanet J Rare Dis. 2016 Nov 3;11(1):147.


Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism.

Tristán-Noguero A, Díez H, Jou C, Pineda M, Ormazábal A, Sánchez A, Artuch R, Garcia-Cazorla À.

Metab Brain Dis. 2016 Jun;31(3):705-9. doi: 10.1007/s11011-015-9780-z. Epub 2015 Dec 21.


Efficacy of the Ketogenic Diet for the Treatment of Refractory Childhood Epilepsy: Cerebrospinal Fluid Neurotransmitters and Amino Acid Levels.

Sariego-Jamardo A, García-Cazorla A, Artuch R, Castejón E, García-Arenas D, Molero-Luis M, Ormazábal A, Sanmartí FX.

Pediatr Neurol. 2015 Nov;53(5):422-6. doi: 10.1016/j.pediatrneurol.2015.07.013. Epub 2015 Aug 8.


Can folic acid have a role in mitochondrial disorders?

Ormazabal A, Casado M, Molero-Luis M, Montoya J, Rahman S, Aylett SB, Hargreaves I, Heales S, Artuch R.

Drug Discov Today. 2015 Nov;20(11):1349-54. doi: 10.1016/j.drudis.2015.07.002. Epub 2015 Jul 14. Review.


Improving ultrasound quality to reduce computed tomography use in pediatric appendicitis: the Safe and Sound campaign.

Kotagal M, Richards MK, Chapman T, Finch L, McCann B, Ormazabal A, Rush RJ, Goldin AB; Safe and Sound Campaign.

Am J Surg. 2015 May;209(5):896-900; discussion 900. doi: 10.1016/j.amjsurg.2014.12.029. Epub 2015 Feb 24.


Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.

Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin MA, Ormazabal A, Pineda M, García-Silva MT, Artuch R.

Orphanet J Rare Dis. 2014 Dec 24;9:217. doi: 10.1186/s13023-014-0217-2.


Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.

Ortez C, Duarte ST, Ormazábal A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Álvarez E, Domingo-Jiménez R, De Castro P, Artuch R, García-Cazorla A.

Mol Genet Metab. 2015 Jan;114(1):34-40. doi: 10.1016/j.ymgme.2014.10.014. Epub 2014 Oct 31.


Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

Yubero D, O'Callaghan M, Montero R, Ormazabal A, Armstrong J, Espinos C, Rodríguez MA, Jou C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P, Artuch R.

BMC Pediatr. 2014 Nov 8;14:284. doi: 10.1186/s12887-014-0284-5.


A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.

Casado M, Altimira L, Montero R, Castejón E, Nascimento A, Pérez-Dueñas B, Ormazabal A, Artuch R.

Anal Bioanal Chem. 2014 Jul;406(18):4337-43. doi: 10.1007/s00216-014-7832-6. Epub 2014 May 2.


Cerebrospinal fluid neopterin analysis in neuropediatric patients: establishment of a new cut off-value for the identification of inflammatory-immune mediated processes.

Molero-Luis M, Fernández-Ureña S, Jordán I, Serrano M, Ormazábal A, Garcia-Cazorla À, Artuch R; Neopterin Working Group.

PLoS One. 2013 Dec 18;8(12):e83237. doi: 10.1371/journal.pone.0083237. eCollection 2013.


Analysis of cerebrospinal fluid γ-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection.

Casado M, Molero M, Sierra C, García-Cazorla A, Ormazabal A, Artuch R.

Electrophoresis. 2014 Apr;35(8):1181-7. doi: 10.1002/elps.201300261. Epub 2014 Jan 28.


Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency.

Ortez C, Jou C, Cortès-Saladelafont E, Moreno J, Pérez A, Ormazábal A, Pérez-Cerdá C, Pérez B, Artuch R, Cusi V, García-Cazorla A.

Gene. 2013 Dec 15;532(2):302-6. doi: 10.1016/j.gene.2013.08.036. Epub 2013 Aug 23.


Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome.

Duarte ST, Armstrong J, Roche A, Ortez C, Pérez A, O'Callaghan Mdel M, Pereira A, Sanmartí F, Ormazábal A, Artuch R, Pineda M, García-Cazorla A.

PLoS One. 2013 Jul 19;8(7):e68851. doi: 10.1371/journal.pone.0068851. Print 2013.


Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R.

Mol Genet Metab. 2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6.


Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

Molero-Luis M, Serrano M, Ormazábal A, Pérez-Dueñas B, García-Cazorla A, Pons R, Artuch R; Neurotransmitter Working Group.

Dev Med Child Neurol. 2013 Jun;55(6):559-66. doi: 10.1111/dmcn.12116. Epub 2013 Mar 11.


Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patients.

Villar C, Campistol J, Fons C, Armstrong J, Mas A, Ormazabal A, Artuch R.

JIMD Rep. 2012;4:13-6. doi: 10.1007/8904_2011_41. Epub 2011 Nov 4.


cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.

Palanca D, Garcia-Cazorla A, Ortiz J, Jou C, Cusí V, Suñol M, Toll T, Perez B, Ormazabal A, Fowler B, Artuch R.

JIMD Rep. 2013;8:57-62. doi: 10.1007/8904_2012_161. Epub 2012 Jul 21.


Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency.

Pons R, Syrengelas D, Youroukos S, Orfanou I, Dinopoulos A, Cormand B, Ormazabal A, Garzía-Cazorla A, Serrano M, Artuch R.

Mov Disord. 2013 Jul;28(8):1058-63. doi: 10.1002/mds.25382. Epub 2013 Feb 6.


Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects.

Serrano M, Pérez-Dueñas B, Montoya J, Ormazabal A, Artuch R.

Drug Discov Today. 2012 Dec;17(23-24):1299-306. doi: 10.1016/j.drudis.2012.07.008. Epub 2012 Jul 23. Review.


Manubrial fracture with an associated innominate artery injury.

Ormazabal A, Muangman N, Stern EJ.

Curr Probl Diagn Radiol. 2012 Jul-Aug;41(4):122-3. doi: 10.1067/j.cpradiol.2011.07.017. No abstract available.


[Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases].

Jimenez E, Ormazabal A, Serrano M, Ortez-Gonzalez CI, Artuch R, Garcia-Cazorla A, Campistol J.

Rev Neurol. 2012 Apr 1;54(7):394-8. Spanish.


[Post-anesthesia recovery. A perspective of patients].

Lacassie HJ, Ferdinand C, Muñoz HR, Díaz S, Ormazábal A.

Rev Med Chil. 2011 Aug;139(8):1104-5. doi: /S0034-98872011000800020. Epub 2011 Dec 20. Spanish. No abstract available.


Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency.

Ortez C, Villar C, Fons C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazábal A, Casado M, Campistol J, Vilaseca MA, García-Cazorla A.

J Alzheimers Dis. 2011;27(2):253-7. doi: 10.3233/JAD-2011-110647.


Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.

Tondo M, Málaga I, O'Callaghan M, Serrano M, Emperador S, Ormazabal A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M, Artuch R.

Mitochondrion. 2011 Nov;11(6):867-70. doi: 10.1016/j.mito.2011.06.009. Epub 2011 Jul 2.


Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.

López-Laso E, Sánchez-Raya A, Moriana JA, Martínez-Gual E, Camino-León R, Mateos-González ME, Pérez-Navero JL, Ochoa-Sepúlveda JJ, Ormazabal A, Opladen T, Klein C, Lao-Villadóniga JI, Beyer K, Artuch R.

J Neurol. 2011 Dec;258(12):2155-62. doi: 10.1007/s00415-011-6079-9. Epub 2011 May 10.


Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.

Pérez-Dueñas B, Ormazábal A, Toma C, Torrico B, Cormand B, Serrano M, Sierra C, De Grandis E, Marfa MP, García-Cazorla A, Campistol J, Pascual JM, Artuch R.

Arch Neurol. 2011 May;68(5):615-21. doi: 10.1001/archneurol.2011.80.


TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.

Fons C, Rizzu P, Garcia-Cazorla A, Martorell L, Ormazabal A, Artuch R, Campistol J, Fernandez-Alvarez E.

Brain Dev. 2012 Mar;34(3):255-7. doi: 10.1016/j.braindev.2011.04.007. Epub 2011 May 8.


Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders.

Serrano M, Ormazábal A, Vilaseca MA, Lambruschini N, Garcia-Romero R, Meavilla S, Perez-Dueñas B, Pineda M, Garcia-Cazorla A, Campistol J, Artuch R.

Clin Biochem. 2011 Jun;44(8-9):742-4. doi: 10.1016/j.clinbiochem.2011.03.136. Epub 2011 Apr 8.


Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype.

Ormazabal A, Serrano M, Garcia-Cazorla A, Campistol J, Artuch R, Castro de Castro P, Barredo-Valderrama E, Armstrong J, Toma C, Cormand B.

Mov Disord. 2011 Jul;26(8):1558-60. doi: 10.1002/mds.23564. Epub 2011 Apr 4. No abstract available. Erratum in: Mov Disord. 2011 Sep;26(11):2148.


Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazábal A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch R, Ugarte M, Desviat LR.

Neurogenetics. 2011 Aug;12(3):183-91. doi: 10.1007/s10048-011-0279-4. Epub 2011 Mar 24.


Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency.

Ormazábal A, Perez-Dueñas B, Sierra C, Urreitzi R, Montoya J, Serrano M, Campistol J, García-Cazorla A, Pineda M, Artuch R.

Clin Biochem. 2011 Jun;44(8-9):719-21. doi: 10.1016/j.clinbiochem.2011.03.002. Epub 2011 Mar 22.


Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.

Pérez-Dueñas B, Toma C, Ormazábal A, Muchart J, Sanmartí F, Bombau G, Serrano M, García-Cazorla A, Cormand B, Artuch R.

J Inherit Metab Dis. 2010 Dec;33(6):795-802. doi: 10.1007/s10545-010-9196-1. Epub 2010 Sep 21.


Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.

De Grandis E, Serrano M, Pérez-Dueñas B, Ormazábal A, Montero R, Veneselli E, Pineda M, González V, Sanmartí F, Fons C, Sans A, Cormand B, Puelles L, Alonso A, Campistol J, Artuch R, García-Cazorla A.

J Inherit Metab Dis. 2010 Dec;33(6):803-9. doi: 10.1007/s10545-010-9200-9. Epub 2010 Sep 18.


Selenium concentration in cerebrospinal fluid samples from a paediatric population.

Tondo M, Moreno J, Casado M, Brandi N, Sierra C, Vilaseca MA, Ormazabal A, Artuch R.

Neurochem Res. 2010 Aug;35(8):1290-3. doi: 10.1007/s11064-010-0182-7. Epub 2010 May 11.


Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.

Serrano M, García-Silva MT, Martin-Hernandez E, O'Callaghan Mdel M, Quijada P, Martinez-Aragón A, Ormazábal A, Blázquez A, Martín MA, Briones P, López-Gallardo E, Ruiz-Pesini E, Montoya J, Artuch R, Pineda M.

Mitochondrion. 2010 Aug;10(5):429-32. doi: 10.1016/j.mito.2010.04.001. Epub 2010 Apr 11.


Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.

Pons R, Serrano M, Ormazabal A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B, Artuch R.

Mov Disord. 2010 Jun 15;25(8):1086-90. doi: 10.1002/mds.23002.


Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome.

Serrano M, Ormazábal A, Antón J, Aróstegui JI, García-Cazorla A.

Pediatr Neurol. 2009 Dec;41(6):448-50. doi: 10.1016/j.pediatrneurol.2009.06.008.


Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).

López-Laso E, Ochoa-Sepúlveda JJ, Ochoa-Amor JJ, Bescansa-Heredero E, Camino-León R, Gascón-Jiménez FJ, Mateos-González ME, Pérez-Navero JL, Lao-Villadóniga JI, Ormazabal A, Artuch R, Beyer K.

J Neurol. 2009 Nov;256(11):1816-24. doi: 10.1007/s00415-009-5198-z. Epub 2009 Jun 16.


Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.

Espinós C, Pineda M, Martínez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R.

J Med Genet. 2009 Jun;46(6):407-11. doi: 10.1136/jmg.2008.060632. Epub 2009 Mar 19.


[Laboratory diagnosis of rare diseases].

Artuch Iriberri R, Moreno J, Puig R, Quintana M, Montero R, Ormazábal A, Vilaseca M.

An Sist Sanit Navar. 2008;31 Suppl 2:91-103. Review. Spanish.


Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines.

Marín-Valencia I, Serrano M, Ormazabal A, Pérez-Dueñas B, García-Cazorla A, Campistol J, Artuch R.

Clin Biochem. 2008 Nov;41(16-17):1306-15. doi: 10.1016/j.clinbiochem.2008.08.077. Epub 2008 Sep 3. Review.


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