1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
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DOI: 10.1038/s41436-021-01143-8
Abstract: Purpose To develop a safe and noninvasive in vivo assay of hepatic propionate oxidative capacity. Methods A modified 1-13C-propionate breath test was administered to 57 methylmalonic acidemia (MMA) subjects, including 19 transplant recipients, and 16… read more here.
Keywords: 13c propionate; acidemia mma; propionate; methylmalonic acidemia ... See more keywords