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Article

DDIEM: drug database for inborn errors of metabolism.

Orphanet journal of rare diseases - 11 Jun 2020

Abdelhakim Marwa, McMurray Eunice, Syed Ali Raza, Kafkas Senay, Kamau Allan Anthony, Schofield Paul N, Hoehndorf Robert

Abstract excerpt

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 treatment and management strategies has proved challenging. An overview of the changing landscape of therapeutic...

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Identifiers

PMID: 32527280
DOI: 10.1186/s13023-020-01428-2
PMCID: PMC7291537

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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