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

Irini ManoliAlexandra R PassElizabeth A HarringtonJennifer L SloanJack GagnéSamantha McCoySarah L BellJacob D HattenbachBrooks P LeitnerCourtney J DuckworthLaura A FletcherThomas M CassimatisCarolina I GalarretaAudrey ThurmJoseph SnowCarol Van RyzinSusan FerryNicholas Ah MewOleg A ShchelochkovKong Y ChenCharles P Venditti

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

This clinical study is registered in www.clinicaltrials.gov with the ID: NCT00078078. Study URL: http://clinicaltrials.gov/ct2/show/NCT00078078.

Keyphrases

computed tomography
magnetic resonance imaging
contrast enhanced
image quality
dual energy
positron emission tomography
magnetic resonance