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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:...
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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: |
BioMed Central
2014
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4180313/ https://ncbi.nlm.nih.gov/pubmed/25205257 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0130-8 |
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