Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.

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作者： Marwan,Nashabat ^[1] ; Abdulrahman,Obaid ^[1] ; Fuad,Al Mutairi ^[1] ; Mohammed,Saleh ^[2] ; Mohammed,Elamin ^[2] ; Hind,Ahmed ^[1] ; Faroug,Ababneh ^[1] ; Wafaa,Eyaid ^[1] ; Abdulrahman,Alswaid ^[1] ; Lina,Alohali ^[1] ; Eissa,Faqeih ^[2] ; Majed,Aljeraisy ^[3] ; Mohamed A,Hussein ^[4] ; Ali,Alasmari ^[2] ; Majid,Alfadhel ^[5]

作者单位： Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), PO Box 22490 11426, Riyadh, Saudi Arabia. ^[1] Medical Genetic Section, King Fahad Medical City, Children's Hospital, Riyadh, Saudi Arabia. ^[2] King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, College of Pharmacy, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia. ^[3] Department Biostatistics and Bioinformatics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia. ^[4] Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), PO Box 22490 11426, Riyadh, Saudi Arabia. dralfadhelm@gmail.com. ^[5]

关键词 Carbaglu?Carglumic acid Hyperammonemia Methylmalonic acidemia Propionic acidemia