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Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia
Propionic acidemia (PA) is manifested as an abnormal accumulation of propionic acid and its metabolites, including methylcitrate, 3-hydroxypropionic acid, and propionylglycine, and is caused by a defect of propionyl-CoA carboxylase. PA is complicated by acute life-threatening metabolic crises, which...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085357/ https://www.ncbi.nlm.nih.gov/pubmed/32231837 http://dx.doi.org/10.1155/2020/4709548 |