Matches in SemOpenAlex for { <https://semopenalex.org/work/W2055137816> ?p ?o ?g. }
- W2055137816 endingPage "1379" @default.
- W2055137816 startingPage "1368" @default.
- W2055137816 abstract "Mitochondrial respiratory chain disorders (MRCDs) are some of the most common metabolic disorders presenting in childhood, however because of it clinical heterogeneity, diagnosis is often challenging. Being a multisystemic disorder with variable and non-specific presentations, definitive diagnosis requires a combination of investigative approaches, and is often a laborious process. In this review we provide a broad overview of the clinical presentations of MRCDs in childhood, evaluating the different diagnostic approaches and treatment options, and highlighting the recent research advances in this area. Extensive research over the years has significantly increased the frequency with which accurate diagnosis is being made, including the identification of new biomarkers and next generation sequencing (NGS) technologies. NGS has provided a breakthrough in unravelling the genetic basis of MRCDs, especially considering the complexity of mitochondrial genetics with its dual genetic contributions. With an increased understanding of the pathophysiology of this group of disorders, clinical trials are now being established using a number of different therapeutic approaches, with the hope of changing the focus of treatment from being largely supportive to potentially having a positive effect on the natural history of the disorder. This article is part of a Special Issue entitled: Special Issue: Frontiers of Mitochondria IG000218." @default.
- W2055137816 created "2016-06-24" @default.
- W2055137816 creator A5031715772 @default.
- W2055137816 creator A5045791231 @default.
- W2055137816 creator A5052835644 @default.
- W2055137816 date "2014-04-01" @default.
- W2055137816 modified "2023-10-18" @default.
- W2055137816 title "Mitochondrial respiratory chain disorders in childhood: Insights into diagnosis and management in the new era of genomic medicine" @default.
- W2055137816 cites W1515247384 @default.
- W2055137816 cites W1524607854 @default.
- W2055137816 cites W1547667831 @default.
- W2055137816 cites W1550224385 @default.
- W2055137816 cites W1602859000 @default.
- W2055137816 cites W1604516742 @default.
- W2055137816 cites W1605281419 @default.
- W2055137816 cites W1665535554 @default.
- W2055137816 cites W1785559151 @default.
- W2055137816 cites W1797378103 @default.
- W2055137816 cites W182337363 @default.
- W2055137816 cites W1964914272 @default.
- W2055137816 cites W1964937477 @default.
- W2055137816 cites W1968408636 @default.
- W2055137816 cites W1969931826 @default.
- W2055137816 cites W1971580681 @default.
- W2055137816 cites W1972242843 @default.
- W2055137816 cites W1972526012 @default.
- W2055137816 cites W1973925468 @default.
- W2055137816 cites W1974498322 @default.
- W2055137816 cites W1975338314 @default.
- W2055137816 cites W1976535783 @default.
- W2055137816 cites W1979524690 @default.
- W2055137816 cites W1979955284 @default.
- W2055137816 cites W1985798683 @default.
- W2055137816 cites W1985849948 @default.
- W2055137816 cites W1989918507 @default.
- W2055137816 cites W1990240344 @default.
- W2055137816 cites W1992071930 @default.
- W2055137816 cites W1992805337 @default.
- W2055137816 cites W1993103503 @default.
- W2055137816 cites W1995152144 @default.
- W2055137816 cites W1995426016 @default.
- W2055137816 cites W1996243008 @default.
- W2055137816 cites W1996330065 @default.
- W2055137816 cites W2002836999 @default.
- W2055137816 cites W2006159932 @default.
- W2055137816 cites W2006893425 @default.
- W2055137816 cites W2011889025 @default.
- W2055137816 cites W2011930412 @default.
- W2055137816 cites W2016352453 @default.
- W2055137816 cites W2016773650 @default.
- W2055137816 cites W2017347785 @default.
- W2055137816 cites W2020250523 @default.
- W2055137816 cites W2020413012 @default.
- W2055137816 cites W2022312470 @default.
- W2055137816 cites W2027968522 @default.
- W2055137816 cites W2028278441 @default.
- W2055137816 cites W2028351273 @default.
- W2055137816 cites W2030760120 @default.
- W2055137816 cites W2031843569 @default.
- W2055137816 cites W2033596900 @default.
- W2055137816 cites W2033849842 @default.
- W2055137816 cites W2034670393 @default.
- W2055137816 cites W2036234175 @default.
- W2055137816 cites W2037204981 @default.
- W2055137816 cites W2040454456 @default.
- W2055137816 cites W2043174838 @default.
- W2055137816 cites W2045409504 @default.
- W2055137816 cites W2047455456 @default.
- W2055137816 cites W2047834942 @default.
- W2055137816 cites W2054417527 @default.
- W2055137816 cites W2059643972 @default.
- W2055137816 cites W2061596350 @default.
- W2055137816 cites W2063325658 @default.
- W2055137816 cites W2066649243 @default.
- W2055137816 cites W2068354638 @default.
- W2055137816 cites W2070177649 @default.
- W2055137816 cites W2072397420 @default.
- W2055137816 cites W2072714570 @default.
- W2055137816 cites W2072969519 @default.
- W2055137816 cites W2073583222 @default.
- W2055137816 cites W2073661381 @default.
- W2055137816 cites W2076929625 @default.
- W2055137816 cites W2077414996 @default.
- W2055137816 cites W2078991180 @default.
- W2055137816 cites W2081620810 @default.
- W2055137816 cites W2083711552 @default.
- W2055137816 cites W2084731468 @default.
- W2055137816 cites W2085804445 @default.
- W2055137816 cites W2086011965 @default.
- W2055137816 cites W2090669387 @default.
- W2055137816 cites W2094009586 @default.
- W2055137816 cites W2094421676 @default.
- W2055137816 cites W2095256063 @default.
- W2055137816 cites W2095482140 @default.
- W2055137816 cites W2096703889 @default.
- W2055137816 cites W2097270551 @default.
- W2055137816 cites W2097370116 @default.
- W2055137816 cites W2099568318 @default.