ArticleJournal of inherited metabolic disease1998
Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease.
Article in Journal of inherited metabolic disease, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 19 citations in OpenAlex.
- An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.Biomolecules · 2021Review
- Current and Emerging Clinical Treatment in Mitochondrial Disease.Molecular diagnosis & therapy · 2021Review
- Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.Annual review of pathology · 2018Review
- Mitochondrial disease patients' perception of dietary supplements' use.Molecular genetics and metabolism · 2016Article
- Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Review
- Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene.Clinical nutrition research · 2015Article
- Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases.Journal of inherited metabolic disease · 2004Article
- Mitochondrial Disease.Current treatment options in neurology · 2001Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Treatment strategies in mitochondrial diseases consist of several drugs that diminish the deleterious effects of the abnormal respiratory chain function, reduce the presence of toxic agents or correct deficiencies in essential cofactors. In this study we evaluated the monitoring of tocopherol, carnitine and ubiquinone concentrations in a group of paediatric patients during a follow-up period of 18 months and the response to treatment of these patients by means of the determination of blood lactate, plasma alanine and oxygen consumption by lymphocytes in relation to the clinical status of the patients. Tocopherol, carnitine and ubiquinone concentrations were easily corrected with therapy. Blood lactate proved the best biochemical tool to assess the response to treatment in paediatric patients. According to our results, improvement or stabilization of the clinical course seems to be more related to the biochemical or molecular defect than to the effectiveness of the treatment.
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