Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation

• Glavni autori: Amira Mobarak (Autor), Heba Dawoud (Autor), Wesam A. Mokhtar (Autor), Abdelrahim A. Sadek (Autor), Gihan Mohamed Bebars (Autor), Amr Ahmed Othman (Autor), Rofaida M. Magdy (Autor), Hanaa Nofal (Autor), Amr Zoair (Autor)
• Format: Knjiga
• Izdano: Hindawi Limited, 2020-01-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

PA and MAA have numerous nonspecific presentations, potentially leading to delayed diagnosis or misdiagnosis. In this paper, we present the clinical and biochemical characteristics of MMA and PA patients at initial presentation. Results. This is a retrospective review of 20 patients with PA (n=10) a...