Carlos
Santos Ocaña
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicacions en col·laboració amb investigadors/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (8)
2024
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Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses
Frontiers in Cellular Neuroscience, Vol. 18
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Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia
Antioxidants, Vol. 13, Núm. 8
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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
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
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