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Methylmalonic acidemia: Current status and research priorities
Methylmalonic acidemia (MMA) is a lethal, severe heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with poor prognosis. Two main forms of the disease have been identified, isolated methylmalonic acidurias and combined methylmalonic aciduria and homocystinuria, whic...
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| 發表在: | Intractable Rare Dis Res |
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| Main Authors: | , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2018
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5982627/ https://ncbi.nlm.nih.gov/pubmed/29862147 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2018.01026 |
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