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A proposed nosology of inborn errors of metabolism
PURPOSE: We propose a nosology for inborn errors of metabolism that builds on their recent redefinition. METHODS: We established a strict definition of criteria in order to develop a self-consistent schema for inclusion of a disorder into the nosology. RESULTS: We identified 1,015 well-characterized...
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| 出版年: | Genet Med |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6286709/ https://ncbi.nlm.nih.gov/pubmed/29884839 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0022-8 |
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