Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome

por Marwaha, Ashish, Ibrahim, Judy, Rice, Taylor, Hamwi, Nadia, Rupar, Charles Anthony, Cresswell, David, Prasad, Chitra, Schulze, Andreas
Publicado 2020

Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple

por Al Harthy, Talib, Colaiacovo, Samantha, Gratton, Robert J., Coughlin, Kevin, Siu, Victoria Mok, Prasad, Chitra, Rupar, Charles, Saleh, Maha
Publicado 2023

Rapid and Efficient Stable Gene Transfer to Mesenchymal Stromal Cells Using a Modified Foamy Virus Vector

por Sweeney, Nathan Paul, Regan, Cathy, Liu, Jiahui, Galleu, Antonio, Dazzi, Francesco, Lindemann, Dirk, Rupar, Charles Anthony, McClure, Myra Olga
Publicado 2016