Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.

Majid AlfadhelMarwan NashabatMohammed SalehMohammed ElaminAhmed AlfaresAli Al OthaimMuhammad UmairHind AhmedFaroug AbabnehFuad Al MutairiWafaa EyaidAbdulrahman AlswaidLina AlohaliEissa FaqeihMohammed AlmannaiMajed AljeraisyBayan AlbdahMohamed A HusseinZuhair RahbeeniAli Alasmari

Published in: Orphanet journal of rare diseases (2021)

Using carglumic acid in addition to standard treatment over the long term significantly reduces the number of ER admissions because of hyperammonemia in patients with PA and MMA.

Keyphrases

randomized controlled trial
systematic review
combination therapy
estrogen receptor
endoplasmic reticulum