Article
The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum.
PloS one - 1 Jan 2026
van Dussen Laura, Albers Emilie V, van der Crabben Saskia N, Lekanne Deprez Ronald H, Plomp Astrid S, Langeveld Mirjam
Abstract excerpt
Fabry disease (FD) is the most common lysosomal storage disorder in which a severe, classical phenotype as well as a milder, non-classical phenotype can be distinguished. In this study we investigated the impact of the introduction of broader DNA sequencing techniques and subsequently the addition of the GLA-gene to NGS or WES based panels on the type of FD patient that is diagnosed by analyzing changes in the...
Read the complete abstract on PubMedTopics
- Humans
- Fabry Disease
- Phenotype
- alpha-Galactosidase
- High-Throughput Nucleotide Sequencing
- Female