GLA c.176A>T ;(p.E59V)

Variant ID: X-100662716-T-A

NM_000169.2(GLA):c.176A>T;(p.E59V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?

Biomedicines
Zedde, Marialuisa M; Pascarella, Rosario R; Cavallieri, Francesco F; Pezzella, Francesca Romana FR; Grisanti, Sara S; Di Fonzo, Alessio A; Valzania, Franco F
Publication Date: 2022-12-05

Variant appearance in text: GLA: E59V
PubMed Link: 36551888
Variant Present in the following documents:
  • Main text
  • biomedicines-10-03132.pdf
View BVdb publication page



High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)
Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K
Publication Date: 2021-09-27

Variant appearance in text: GLA: E59V
PubMed Link: 34679477
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01779.pdf
View BVdb publication page



Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees.

Journal Of Parkinson'S Disease
Gago, Miguel Fernandes MF; Azevedo, Olga O; GuimarĂ£es, Andreia A; Teresa Vide, Ana A; Lamas, Nuno J NJ; Oliveira, Tiago Gil TG; Gaspar, Paulo P; Bicho, Estela E; Miltenberger-Miltenyi, Gabriel G; Ferreira, Joaquim J; Sousa, Nuno N
Publication Date: 2020

Variant appearance in text: GLA: E59V
PubMed Link: 31594250
Variant Present in the following documents:
  • Main text
  • jpd-10-jpd191704.pdf
View BVdb publication page



Parkinson's disease prevalence in Fabry disease: A survey study.

Molecular Genetics And Metabolism Reports
Wise, Adina H AH; Yang, Amy A; Naik, Hetanshi H; Stauffer, Chanan C; Zeid, Natasha N; Liong, Christopher C; Balwani, Manisha M; Desnick, Robert J RJ; Alcalay, Roy N RN
Publication Date: 2018-03

Variant appearance in text: GLA: E59V
PubMed Link: 29159076
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page