Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias
Abstract Propionic aciduria (PA) and methylmalonic aciduria (MMA) are rare inherited disorders caused by defects in the propionate metabolic pathway. PA due to propionyl coenzyme A carboxylase deficiency results in accumulation of propionic acid, while in MMA, deficiency in methylmalonyl coenzyme A...
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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMC
2024-12-01
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| シリーズ: | Orphanet Journal of Rare Diseases |
| 主題: | |
| オンライン･アクセス: | https://doi.org/10.1186/s13023-024-03468-4 |
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