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- W3135836989 abstract "Primary mitochondrial disease (PMD) is a group of complex genetic disorders that arise due to pathogenic variants in nuclear or mitochondrial genomes. Although PMD is one of the most prevalent inborn errors of metabolism, it often exhibits marked phenotypic variation and can therefore be difficult to recognise. Current treatment for PMD revolves around supportive and preventive approaches, with few disease-specific therapies available. However, over the last decade there has been considerable progress in our understanding of both the genetics and pathophysiology of PMD. This has resulted in the development of a plethora of new pharmacological and non-pharmacological therapies at varying stages of development. Many of these therapies are currently undergoing clinical trials. This review summarises the latest emerging therapies that may become mainstream treatment in the coming years. It is distinct from other recent reviews in the field by comprehensively addressing both pharmacological non-pharmacological therapy from both a bench and a bedside perspective. We highlight the current and developing therapeutic landscape in novel pharmacological treatment, dietary supplementation, exercise training, device use, mitochondrial donation, tissue replacement gene therapy, hypoxic therapy and mitochondrial base editing." @default.
- W3135836989 created "2021-03-15" @default.
- W3135836989 creator A5010325069 @default.
- W3135836989 creator A5053767923 @default.
- W3135836989 creator A5082266437 @default.
- W3135836989 creator A5086765065 @default.
- W3135836989 date "2021-03-01" @default.
- W3135836989 modified "2023-10-16" @default.
- W3135836989 title "Current and Emerging Clinical Treatment in Mitochondrial Disease" @default.
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