Publicaciones en las que colabora con Rafael Artuch Iriberri (32)

2024

  1. Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434

  2. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

2022

  1. Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle

    Frontiers in Physiology, Vol. 13

2020

  1. Clinical presentation and proteomic signature of patients with TANGO2 mutations

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 2, pp. 297-308

  2. Coenzyme Q10 treatment monitoring in different human biological samples

    Antioxidants

  3. Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency

    Clinical chemistry, Vol. 66, Núm. 11, pp. 1465-1467

2019

  1. ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency

    Journal of Clinical Medicine, Vol. 8, Núm. 9

  2. Muscle involvement in a large cohort of pediatric patients with genetic diagnosis of mitochondrial disease

    Journal of Clinical Medicine, Vol. 8, Núm. 1

  3. Plasma coenzyme Q10 status is impaired in selected genetic conditions

    Scientific Reports, Vol. 9, Núm. 1

2018

  1. Molecular diagnosis of coenzyme Q 10 deficiency: an update

    Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498

2017

  1. Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency

    Stem Cells, Vol. 35, Núm. 7, pp. 1687-1703

2016

  1. A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

    Scientific Reports, Vol. 6, Núm. 1

  2. Coenzyme Q10 and pyridoxal phosphate deficiency is a common feature in mucopolysaccharidosis type III

    JIMD Reports (Springer), pp. 1-7

  3. Free-thiamine is a potential biomarker of Thiamine transporter-2 deficiency: A treatable cause of Leigh syndrome

    Brain, Vol. 139, Núm. 1, pp. 31-38

  4. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion, Vol. 30, pp. 51-58

  5. Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q 10 content

    European Journal of Human Genetics, Vol. 24, Núm. 3, pp. 367-372

2015

  1. Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population

    BioFactors, Vol. 41, Núm. 6, pp. 424-430

  2. Molecular diagnosis of coenzyme Q10 deficiency

    Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059

2014

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

    BMC Pediatrics, Vol. 14, Núm. 1

  2. Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

    Journal of Inherited Metabolic Disease, Vol. 37, Núm. 1, pp. 53-62