Rafael
Artuch Iriberri
Publicaciones en las que colabora con Rafael Artuch Iriberri (9)
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
2020
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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
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
2015
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Molecular diagnosis of coenzyme Q10 deficiency
Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059
2012
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Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency
Journal of Medical Genetics, Vol. 49, Núm. 3, pp. 187-191
2008
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Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis
Biochemical and Biophysical Research Communications, Vol. 372, Núm. 1, pp. 35-39