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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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| Publicado no: | Genet Med |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | 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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