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A next generation multiscale view of inborn errors of metabolism

Inborn errors of metabolism (IEM) are not unlike common diseases. They often present as a spectrum of disease phenotypes that correlates poorly with the severity of the disease-causing mutations. This greatly impacts patient care and reveals fundamental gaps in our knowledge of disease modifying bio...

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Detalhes bibliográficos
Publicado no:Cell Metab
Main Authors: Argmann, Carmen A., Houten, Sander M., Zhu, Jun, Schadt, Eric E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4715559/
https://ncbi.nlm.nih.gov/pubmed/26712461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cmet.2015.11.012
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