Fisiología, Anatomía y Biología Celular
Departamento
![Foto de Rafael](/img/nophoto.png)
Rafael
Artuch Iriberri
Publicaciones en las que colabora con Rafael Artuch Iriberri (32)
2024
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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
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
2022
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Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle
Frontiers in Physiology, Vol. 13
2020
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Clinical presentation and proteomic signature of patients with TANGO2 mutations
Journal of Inherited Metabolic Disease, Vol. 43, Núm. 2, pp. 297-308
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Coenzyme Q10 treatment monitoring in different human biological samples
Antioxidants
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Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency
Clinical chemistry, Vol. 66, Núm. 11, pp. 1465-1467
2019
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ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency
Journal of Clinical Medicine, Vol. 8, Núm. 9
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Muscle involvement in a large cohort of pediatric patients with genetic diagnosis of mitochondrial disease
Journal of Clinical Medicine, Vol. 8, Núm. 1
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Plasma coenzyme Q10 status is impaired in selected genetic conditions
Scientific Reports, Vol. 9, Núm. 1
2018
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Molecular diagnosis of coenzyme Q 10 deficiency: an update
Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498
2017
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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
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A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities
Scientific Reports, Vol. 6, Núm. 1
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Coenzyme Q10 and pyridoxal phosphate deficiency is a common feature in mucopolysaccharidosis type III
JIMD Reports (Springer), pp. 1-7
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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
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Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion, Vol. 30, pp. 51-58
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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
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Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population
BioFactors, Vol. 41, Núm. 6, pp. 424-430
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Molecular diagnosis of coenzyme Q10 deficiency
Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059
2014
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Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
BMC Pediatrics, Vol. 14, Núm. 1
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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