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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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Détails bibliographiques
Publié dans:Int J Pediatr
Auteurs principaux: Mobarak, Amira, Dawoud, Heba, Mokhtar, Wesam A., Sadek, Abdelrahim A., Bebars, Gihan Mohamed, Othman, Amr Ahmed, Magdy, Rofaida M., Nofal, Hanaa, Zoair, Amr
Format: Artigo
Langue:Inglês
Publié: Hindawi 2020
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7700050/
https://ncbi.nlm.nih.gov/pubmed/33293965
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/7653716
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