ArticleNeurology. Genetics2024
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q
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Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6citing papers in PubMed
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What it found
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Who cites it
6 citing papers in PubMed.
- Evaluating a Coenzyme Q10-Based Food for Special Medical Purpose, for Mitochondrial Diseases Management: An Open-Label, Pilot Trial.International journal of molecular sciences · 2026Trial
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- Imaging patterns of paediatric CNS mitochondrial disorders.Neuroradiology · 2026Review
- Case Report: Pediatric nephrology-expanding the genotypic spectrum ofFrontiers in medicine · 2026Article
- Therapies for Mitochondrial Disease: Past, Present, and Future.Journal of inherited metabolic disease · 2025Review
- Identification of a newMolecular genetics and metabolism reports · 2025Article
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Authors and funding
11 authors.
Azizia WahediFrom the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Sniya SudhakarFrom the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Amanda LamFrom the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Jose Ignacio Rodriguez CiancioFrom the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Philippa MillsFrom the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Paul GissenFrom the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.ORCID https://orcid.org/0000-0002-9712-6122
Alice GardhamFrom the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Jogesh KapadiaFrom the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Jane HassellFrom the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Simon HealesFrom the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Shamima RahmanFrom the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.ORCID https://orcid.org/0000-0003-2088-730X
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Disorders of coenzyme Q Methods: This was a retrospective cohort study, registered as an audit at a specialist pediatric hospital (Registration Number: 3318) of 14 patients with genetically confirmed CoQ Results: We show that oral doses of CoQ Discussion: An early genome-wide diagnostic approach is needed for expeditious diagnosis of CoQ
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