DDIEM: drug database for inborn errors of metabolism

DDIEM: drug database for inborn errors of metabolism

Abstract 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...

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Bibliographic Details
Main Authors: Marwa Abdelhakim, Eunice McMurray, Ali Raza Syed, Senay Kafkas, Allan Anthony Kamau, Paul N Schofield, Robert Hoehndorf
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Inborn errors of metabolism
Orphan disease
Ontology
Drug effect
Drug repositioning
Therapeutic procedure
Online Access:http://link.springer.com/article/10.1186/s13023-020-01428-2

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http://link.springer.com/article/10.1186/s13023-020-01428-2

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