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Article

[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].

La Revue de medecine interne - 1 Dec 2010

Piraud M, Maire I, Froissart R

Abstract excerpt

Globotriaosylceramide (Gb(3)) has been measured in urine of 35 male hemizygotes and 66 female heterozygotes for Fabry disease (FD). In males, Gb(3) measurement allows to confirm the diagnosis which is based on deficient α-galactosidase A (α-Gal A) activity in leukocytes. Our results show that hemizygotes for classic FD have increased Gb(3) and C24/C18 isoforms ratio. Hemizygotes for FD variants have slightly...

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Identifiers

PMID: 21211678
DOI: 10.1016/S0248-8663(10)70026-6

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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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