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.
- DOI
- 10.1371/journal.pone.0358572
- Published
- 2026
- Container
- PloS one
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1371/journal.pone.0358572,
title = {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.},
author = {van Dussen L and Albers EV and van der Crabben SN and Lekanne Deprez RH and Plomp AS and Langeveld M},
year = {2026},
journal = {PloS one},
doi = {10.1371/journal.pone.0358572},
url = {https://doi.org/10.1371/journal.pone.0358572}
}RIS
TY - JOUR TI - 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. AU - van Dussen L AU - Albers EV AU - van der Crabben SN AU - Lekanne Deprez RH AU - Plomp AS AU - Langeveld M PY - 2026 JO - PloS one DO - 10.1371/journal.pone.0358572 UR - https://doi.org/10.1371/journal.pone.0358572 ER -
APA
L, V. D., EV, A., SN, V. D. C., RH, L. D., AS, P., & M, L. (2026). 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. https://doi.org/10.1371/journal.pone.0358572
Source records
- pubmed · retrieved 2026-09-26T03:09:42.098Z