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Rafael
Artuch Iriberri
Rafael Artuch Iriberri-rekin lankidetzan egindako argitalpenak (8)
2024
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
2020
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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
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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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
2014
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Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
BMC Pediatrics, Vol. 14, Núm. 1