1- 13 C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

Genetics in medicine : official journal of the American College of Medical Genetics

Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, …, Oleg A Shchelochkov, Kong Y Chen, Charles P Venditti

• DOI: 10.1038/s41436-021-01143-8
• PMID: 33820958
• PMCID: PMC8354855