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Journal Article
Research Support, Non-U.S. Gov't
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.
Journal of Pediatrics 1992 December
3-Methylglutaconic aciduria was detected in four patients with Pearson syndrome, a multitissue disorder with hematologic abnormalities, lactic acidosis resulting from defective oxidative phosphorylation, and deletions in the mitochondrial genome. 3-Methylglutaconic acid may be an additional useful marker for Pearson syndrome and may be a more specific marker than other organic acids identified in this disorder.
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