Novel diagnostics for Rare Disorders: Fabry in females, presented at WorldSymposium

7. März 2018

The parallel measurement of lyso-GL-3 (lyso-Gb3) for Fabry disease is of high importance particularly for potential female Fabry patients,...

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Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

5. Juli 2017

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA)...

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Metabolic progression to clinical phenotype in classic Fabry disease

3. Januar 2017

Background: Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of...

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Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

19. Oktober 2016

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to mutations in the a-galactosidase A gene (GLA)...

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