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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Detalles Bibliográficos
Autores principales: Ferreira, Carlos R., van Karnebeek, Clara D.M., Vockley, Jerry, Blau, Nenad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286709/
https://www.ncbi.nlm.nih.gov/pubmed/29884839
http://dx.doi.org/10.1038/s41436-018-0022-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286709/
https://www.ncbi.nlm.nih.gov/pubmed/29884839
http://dx.doi.org/10.1038/s41436-018-0022-8

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