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Article

Type 1 Gaucher disease (CYP2D6-eliglustat).

Therapie - 1 Apr 2017

Becquemont Laurent

Abstract excerpt

Type 1 Gaucher disease is a rare genetic disease characterized by enzymatic deficit leading to glucosylceramide overload in body tissues (lysosomal overload disease). Standard treatment is based on substitutive enzyme therapy by intravenous perfusion. A new drug for oral administration, eliglustat, was recently awarded marketing approval in Europe and the USA. Eliglustat acts by reducing the enzyme substrate....

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Identifiers

PMID: 28242126
DOI: 10.1016/j.therap.2016.09.019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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