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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...
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| 發表在: | Case Rep Pediatr |
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| Main Authors: | , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Hindawi
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7085357/ https://ncbi.nlm.nih.gov/pubmed/32231837 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/4709548 |
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