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Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation

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)...

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Detalles Bibliográficos
Autores principales: Mobarak, Amira, Dawoud, Heba, Mokhtar, Wesam A., Sadek, Abdelrahim A., Bebars, Gihan Mohamed, Othman, Amr Ahmed, Magdy, Rofaida M., Nofal, Hanaa, Zoair, Amr
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7700050/
https://www.ncbi.nlm.nih.gov/pubmed/33293965
http://dx.doi.org/10.1155/2020/7653716