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DDIEM: drug database for inborn errors of metabolism

BACKGROUND: Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at the molecular level, and overall the development of treat...

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Main Authors: Abdelhakim, Marwa, McMurray, Eunice, Syed, Ali Raza, Kafkas, Senay, Kamau, Allan Anthony, Schofield, Paul N, Hoehndorf, Robert
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2020
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7291537/
https://ncbi.nlm.nih.gov/pubmed/32527280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01428-2
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