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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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Bibliografske podrobnosti
izdano v:Int J Pediatr
Main Authors: 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
Jezik:Inglês
Izdano: Hindawi 2020
Teme:
Online dostop: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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