Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) de...
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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Mitochondrial respiratory chain dysfunction has been identified in a number of neurodegenerative disorders. Infantile cerebellar-retinal degeneration associated with mutations in the mitochondrial aconitase 2 gene (ACO2) has been recently described as a neurodegenerative disease of autosomal recessive inheritance. To date there is no biomarker for...
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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
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TN_cdi_plos_journals_1894814458
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1894814458
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0176363
