R Artuch


Country: Spain


  1. Casado M, Sierra C, Batllori M, Artuch R, Ormazabal A. A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry. Metabolomics. 2018;14:76 pubmed publisher
    ..The method greatly decreases the run time of the analysis while displaying good metrological results. ..
  2. Montero R, Yubero D, Salgado M, González M, Campistol J, O Callaghan M, et al. Plasma coenzyme Q10 status is impaired in selected genetic conditions. Sci Rep. 2019;9:793 pubmed publisher
  3. Batllori M, Molero Luís M, Ormazabal A, Montero R, Sierra C, Ribes A, et al. Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience. J Inherit Metab Dis. 2018;41:1147-1158 pubmed publisher
    ..High CSF HVA values, together with a severe cerebral folate deficiency, were observed in KSS patients and in other mtDNA mutation syndromes. ..
  4. Quijada Fraile P, O Callaghan M, Martín Hernández E, Montero R, Garcia Cazorla Ã, de Aragón A, et al. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. Orphanet J Rare Dis. 2014;9:217 pubmed publisher
    ..Early treatment with high-dose folinic acid therapy seems to be advisable for the treatment of KSS. Eudrac T2007-00-6748-23. ..
  5. Ormazabal A, Casado M, Molero Luís M, Montoya J, Rahman S, Aylett S, et al. Can folic acid have a role in mitochondrial disorders?. Drug Discov Today. 2015;20:1349-54 pubmed publisher
    ..In this review, we focus on the evidence that supports the potential involvement of impaired folate metabolism in the pathophysiology of mitochondrial disorders. ..
  6. Yubero D, O Callaghan M, Montero R, Ormazabal A, Armstrong J, Espinos C, et al. Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency. BMC Pediatr. 2014;14:284 pubmed publisher
    ..Although ketogenic diet seems to correct the clinical consequences of CoQ deficiency, adjuvant treatment with CoQ could be trialled in this condition if our findings are confirmed in further G1D patients. ..
  7. O Callaghan M, Emperador S, Pineda M, López Gallardo E, Montero R, Yubero D, et al. Mutation loads in different tissues from six pathogenic mtDNA point mutations. Mitochondrion. 2015;22:17-22 pubmed publisher
  8. Yubero D, Montero R, O Callaghan M, Pineda M, Meavilla S, Delgadillo V, et al. Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III. JIMD Rep. 2016;25:1-7 pubmed
    ..If our results are confirmed in larger series of patients, CoQ and PLP therapy could be trialed as coadjuvant therapy with the current MPS treatments. ..
  9. Yubero D, Allen G, Artuch R, Montero R. The Value of Coenzyme Q10 Determination in Mitochondrial Patients. J Clin Med. 2017;6: pubmed publisher
    ..CoQ may be measured in different specimens, including plasma, blood mononuclear cells, platelets, urine, muscle, and cultured skin fibroblasts. Blood and urinary CoQ also have good utility for CoQ treatment monitoring. ..

More Information


  1. Yubero D, Adin A, Montero R, Jou C, Jimenez Mallebrera C, Garcia Cazorla A, et al. A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities. Sci Rep. 2016;6:15 pubmed publisher
    ..Furthermore, the application of this algorithm may be useful to re-classify mitochondrial patients or to explore associations among other biochemical variables from different biological systems. ..
  2. Izquierdo Serra M, Martinez Monseny A, Lopez L, Carrillo Garcia J, Edo A, Ortigoza Escobar J, et al. Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy. Int J Mol Sci. 2018;19: pubmed publisher
    ..1 channel. CaV2.1 hypoglycosylation may cause ataxia and SLEs in PMM2-CDG patients. Aberrant CaV2.1 N-glycosylation as a novel pathomechanism in PMM2-CDG opens new therapeutic possibilities. ..
  3. Yubero D, Montero R, Martin M, Montoya J, Ribes A, Grazina M, et al. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders. Mitochondrion. 2016;30:51-8 pubmed publisher
  4. Batllori M, Molero Luís M, Arrabal L, Heras J, Fernandez Ramos J, Gutiérrez Solana L, et al. Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients. Sci Rep. 2017;7:14675 pubmed publisher
    ..In conclusion, sulphatoxymelatonin can be a good biomarker to estimate serotonin status in the brain, especially for treatment monitoring purposes. ..