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Peer-reviewedCC BYFrontiers in medicine

Case Report: Fabry cardiomyopathy associated with a novel truncating GLA variant, c.837_838delinsAT, p.(Gln280Ter)

  • Fernando Perretta1
  • Eduardo Zurita2
  • Marcelo Ortiz3
  • Juan Politei4
4 affiliations
  1. 1Department of Nephrology, NEFRA Medical Care , ,
  2. 2Department of Cardiology, Hospital Zonal General de Agudos Dr. Enrique Erill , ,
  3. 3Intensive Care Unit, Hospital Zonal General de Agudos Dr. Enrique Erill , ,
  4. 4Department of Neurology, Fundación SPINE , ,
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Cite

BibTeXRIS
BibTeX
@article{perretta2026case,
  title = {{Case Report: Fabry cardiomyopathy associated with a novel truncating GLA variant, c.837_838delinsAT, p.(Gln280Ter)}},
  author = {Fernando Perretta and Eduardo Zurita and Marcelo Ortiz and Juan Politei},
  journal = {Frontiers in medicine},
  year = {2026},
  month = oct,
  url = {https://europepmc.org/article/PMC/PMC13654775},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Case Report: Fabry cardiomyopathy associated with a novel truncating GLA variant, c.837_838delinsAT, p.(Gln280Ter)
AU  - Fernando Perretta
AU  - Eduardo Zurita
AU  - Marcelo Ortiz
AU  - Juan Politei
PY  - 2026
DA  - 2026/10/16
JO  - Frontiers in medicine
UR  - https://europepmc.org/article/PMC/PMC13654775
SN  - 2296-858X
ER  -