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- W2985067723 abstract "Mitochondrial disorders present in a myriad of ways, which causes them to be included in the differential diagnosis for many patients with undiagnosed disease. A subset of mitochondrial disorders are caused by intrinsic defects in the mitochondrial replication machinery, leading to loss of cellular mitochondrial content over time. The diagnosis of mitochondrial disease is complex. Several best-practice guides are available that enable a higher likelihood of detecting a mitochondrial disorder. The application of genomic sequencing and advanced physiologic analysis of the electron transport chain can offer more definitive evidence of mitochondrial dysfunction." @default.
- W2985067723 created "2019-11-22" @default.
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- W2985067723 date "2020-03-01" @default.
- W2985067723 modified "2023-10-14" @default.
- W2985067723 title "Mitochondrial DNA Depletion Syndromes" @default.
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- W2985067723 doi "https://doi.org/10.1016/j.clp.2019.10.008" @default.
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