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

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...

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Asıl Yazarlar: Sufin Yap (Yazar), Delphine Lamireau (Yazar), Francois Feillet (Yazar), Angeles Ruiz Gomez (Yazar), James Davison (Yazar), Trine Tangeraas (Yazar), Vincenzo Giordano (Yazar)
Materyal Türü: Kitap
Baskı/Yayın Bilgisi: Adis, Springer Healthcare, 2024-01-01T00:00:00Z.
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