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Article

The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature.

Cardiovascular & hematological agents in medicinal chemistry - 1 Oct 2006

Bekri Soumeya, Lidove Olivier, Jaussaud Roland, Knebelmann Bertrand, Barbey Fréderic

Abstract excerpt

Fabry disease is caused by a deficiency of a-galactosidase A which leads to the progressive intra-lysosomal accumulation of ceramide trihexoside (CTH), also known as globotriaosylceramide (Gb3), in different cell types and body fluids. The clinical manifestations are multisystemic and predominant...

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Identifiers

PMID: 17073606
DOI: 10.2174/187152506778520718

Genes

CTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17073606-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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