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Article

Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.

Journal of inherited metabolic disease - 1 Sept 2013

Chien Yin-Hsiu, Bodamer Olaf A, Chiang Shu-Chuan, Mascher Hermann, Hung Christina, Hwu Wuh-Liang

Abstract excerpt

Lyso-globotriaosylsphingosine (lyso-Gb3) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso-Gb3 is elevated in patients with later-onset Fabry disease. Thus, we measured lyso-Gb3 levels from dried blood spots (DBS) from male newborns with the Fabry disease later-onset phenotype, IVS4+919G>A mutation, and their family members. The lyso-Gb3...

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Identifiers

PMID: 23109060
DOI: 10.1007/s10545-012-9547-1

Genes

GLA

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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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