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. ..
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
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. ..
Quijada Fraile P, O Callaghan M, MartÃn HernÃ¡ndez E, Montero R, Garcia Cazorla Ã, de AragÃ³n 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. ..
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. ..
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. ..
O Callaghan M, Emperador S, Pineda M, LÃ³pez 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
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. ..
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. ..