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Expert Review of Molecular Diagnostics Volume 18, 2018 - Issue 6
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Special Report

Molecular diagnosis of coenzyme Q10 deficiency: an update

Delia YuberoDepartment of Genetic and Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER), Barcelona, SpainView further author information
,
Raquel MonteroDepartment of Genetic and Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER), Barcelona, SpainView further author information
,
Carlos Santos-OcañaCentro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide and CIBERER, Sevilla, SpainView further author information
,
Leonardo SalviatiClinical Genetics Unit, Department of Pediatrics, University of Padova, Padova, ItalyView further author information
,
Placido NavasCentro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide and CIBERER, Sevilla, SpainView further author information
&
Rafael ArtuchDepartment of Genetic and Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER), Barcelona, SpainCorrespondence[email protected]
View further author information
Pages 491-498 | Received 02 Apr 2018, Accepted 15 May 2018, Published online: 30 May 2018

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Jeannette Y. Stallworth, David R. Blair, Anne Slavotinek, Anthony T. Moore, Jacque L. Duncan & Alejandra G. de Alba Campomanes. (2023) Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency. Ophthalmic Genetics 44:5, pages 486-490.
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Articles from other publishers (21)

Connie C. W. Hsia. (2023) Tissue Perfusion and Diffusion and Cellular Respiration: Transport and Utilization of Oxygen. Seminars in Respiratory and Critical Care Medicine.
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A. M. Chaulin & D. V. Duplyakov. (2023) Statins and highly sensitive cardiac troponins: cardiotoxicity or cross-reactivity?. Rational Pharmacotherapy in Cardiology 19:2, pages 209-216.
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Tian-Tian Pu, Wei Wu, Pei-Da Liang, Jin-Chan Du, Sheng-Li Han, Xiu-Ling Deng & Xiao-Jun Du. (2023) Evaluation of Coenzyme Q10 (CoQ10) Deficiency and Therapy in Mouse Models of Cardiomyopathy. Journal of Cardiovascular Pharmacology 81:4, pages 259-269.
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Patrick F. Chinnery. (2022) Precision mitochondrial medicine. Cambridge Prisms: Precision Medicine 1.
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Ana Sánchez-Cuesta, Ana Belén Cortés-Rodríguez, Ignacio Navas-Enamorado, José Antonio Lekue, Toscana Viar, Martín Axpe, Plácido Navas & Guillermo López-Lluch. (2022) High coenzyme Q10 plasma levels improve stress and damage markers in professional soccer players during competition. International Journal for Vitamin and Nutrition Research 92:3-4, pages 192-203.
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Leonardo Salviati & Rafael Artuch. 2022. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases 915 925 .
Juan Diego Hernández-Camacho, Laura García-Corzo, Daniel José Moreno Fernández-Ayala, Plácido Navas & Guillermo López-Lluch. (2021) Coenzyme Q at the Hinge of Health and Metabolic Diseases. Antioxidants 10:11, pages 1785.
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Carlos Santos-Ocaña, María V. Cascajo, María Alcázar-Fabra, Carmine Staiano, Guillermo López-Lluch, Gloria Brea-Calvo & Plácido Navas. (2021) Cellular Models for Primary CoQ Deficiency Pathogenesis Study. International Journal of Molecular Sciences 22:19, pages 10211.
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Lucía Fernández-del-Río & Catherine F. Clarke. (2021) Coenzyme Q Biosynthesis: An Update on the Origins of the Benzenoid Ring and Discovery of New Ring Precursors. Metabolites 11:6, pages 385.
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Plácido Navas, María V. Cascajo, María Alcázar‐Fabra, Juan D. Hernández‐Camacho, Ana Sánchez‐Cuesta, Ana Belén Cortés Rodríguez, Manuel Ballesteros‐Simarro, Antonio Arroyo‐Luque, Juan Carlos Rodríguez‐Aguilera, Daniel J. M. Fernández‐Ayala, Gloria Brea‐Calvo, Guillermo López‐Lluch & Carlos Santos‐Ocaña. (2021) Secondary CoQ 10 deficiency, bioenergetics unbalance in disease and aging . BioFactors.
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Josef Finsterer. (2020) Clinical Therapeutic Management of Human Mitochondrial Disorders. Pediatric Neurology 113, pages 66-74.
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Anne M. Schijvens, Nicole C. van de Kar, Charlotte M. Bootsma-Robroeks, Elisabeth A. Cornelissen, Lambertus P. van den Heuvel & Michiel F. Schreuder. (2020) Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency. Kidney International Reports 5:12, pages 2146-2159.
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Elena J. Tucker, Rocio Rius, Sylvie Jaillard, Katrina Bell, Phillipa J. Lamont, André Travessa, Juliette Dupont, Lurdes Sampaio, Jérôme Dulon, Sandrine Vuillaumier-Barrot, Sandra Whalen, Arnaud Isapof, Tanya Stojkovic, Susana Quijano-Roy, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrea Simpson, Katie Ayers, David R. Thorburn, John Christodoulou, Philippe Touraine & Andrew H. Sinclair. (2020) Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM). Human Genetics 139:10, pages 1325-1343.
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Linwei Zhang, Tetsuo Ashizawa & Dantao Peng. (2020) Primary coenzyme Q10 deficiency due to COQ8A gene mutations . Molecular Genetics & Genomic Medicine 8:10.
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Iain Hargreaves, Robert A. Heaton & David Mantle. (2020) Disorders of Human Coenzyme Q10 Metabolism: An Overview. International Journal of Molecular Sciences 21:18, pages 6695.
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Lucía Fernández-del-Río, Miranda E. Kelly, Jaime Contreras, Michelle C. Bradley, Andrew M. James, Michael P. Murphy, Gregory S. Payne & Catherine F. Clarke. (2020) Genes and lipids that impact uptake and assimilation of exogenous coenzyme Q in Saccharomyces cerevisiae. Free Radical Biology and Medicine 154, pages 105-118.
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Catherine Meza-Torres, Juan Diego Hernández-Camacho, Ana Belén Cortés-Rodríguez, Luis Fang, Tung Bui Thanh, Elisabet Rodríguez-Bies, Plácido Navas & Guillermo López-Lluch. (2020) Resveratrol Regulates the Expression of Genes Involved in CoQ Synthesis in Liver in Mice Fed with High Fat Diet. Antioxidants 9:5, pages 431.
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Josef Finsterer. (2020) Update Review about Metabolic Myopathies. Life 10:4, pages 43.
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Patrick F. Chinnery & Rita Horvath. 2020. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease 415 425 .
Iain Hargreaves, David Mantle & David Milford. (2019) Chronic kidney disease and coenzyme Q10 supplementation. Journal of Kidney Care 4:2, pages 82-90.
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Iain P. Hargreaves & David Mantle. 2019. Reviews on Biomarker Studies in Aging and Anti-Aging Research. Reviews on Biomarker Studies in Aging and Anti-Aging Research 103 112 .

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