Highlights
Fabry is an X-linked lysosomal storage disease with deficiency in α-galactosidase.
This deficiency results in the accumulation of glycosphinogolipids.
Diagnosis is often made by analysis of globotriaosylceramide in fluids and tissues.
Fabry is often misdiagnosed in female patients due to residual enzyme activity.
Lipidomics by LC-HRMS enables identification of new biomarkers in Fabry.
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