Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study

• Príomhchruthaitheoirí: Sufin Yap (Údar), Delphine Lamireau (Údar), Francois Feillet (Údar), Angeles Ruiz Gomez (Údar), James Davison (Údar), Trine Tangeraas (Údar), Vincenzo Giordano (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: Adis, Springer Healthcare, 2024-01-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

Abstract Background and Objective Methylmalonic aciduria (MMA) and propionic aciduria (PA) are organic acidurias characterised by the accumulation of toxic metabolites and hyperammonaemia related to secondary N-acetylglutamate deficiency. Carglumic acid, a synthetic analogue of N-acetylglutamate, de...