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

INTRODUCTION: Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare autosomal recessive inborn errors of metabolism characterized by hyperammonemia due to N-acetylglutamate synthase (NAGS) dysfunction. Carglumic acid (Carbaglu®; Orphan Europe Ltd.) is approved by the US Food and Drug Adm...

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Vydáno v:BMC Pediatr
Hlavní autoři: Nashabat, Marwan, Obaid, Abdulrahman, Al Mutairi, Fuad, Saleh, Mohammed, Elamin, Mohammed, Ahmed, Hind, Ababneh, Faroug, Eyaid, Wafaa, Alswaid, Abdulrahman, Alohali, Lina, Faqeih, Eissa, Aljeraisy, Majed, Hussein, Mohamed A., Alasmari, Ali, Alfadhel, Majid
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Study Protocol
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6563377/
https://ncbi.nlm.nih.gov/pubmed/31196016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1571-y
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