Publications:

The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.

Orphanet Journal Of Rare Diseases

Sánchez, Rosario R; Ripoll-Vera, Tomás T; López-Mendoza, Manuel M; de Juan-Ribera, Joaquín J; Gimeno, Juan Ramón JR; Hermida, Álvaro Á; Ruz-Zafra, María Aurora MA; Torregrosa, José Vicente JV; Mora, Antonia A; García-Pinilla, José Manuel JM; Fortuny, Elena E; Aguinaga-Barrilero, Ana A; Torra, Roser R

Publication Date: 2023-01-09

Variant appearance in text: GLA: 242G>C; Trp81Ser

PubMed Link: 36624527

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2599.pdf

View BVdb publication page

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: W81S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Fabry disease in the Spanish population: observational study with detection of 77 patients.

Orphanet Journal Of Rare Diseases

Vieitez, Irene I; Souto-Rodriguez, Olga O; Fernandez-Mosquera, Lorena L; San Millan, Beatriz B; Teijeira, Susana S; Fernandez-Martin, Julian J; Martinez-Sanchez, Felisa F; Aldamiz-Echevarria, Luis Jose LJ; Lopez-Rodriguez, Monica M; Navarro, Carmen C; Ortolano, Saida S

Publication Date: 2018-04-10

Variant appearance in text: GLA: Trp81Ser

PubMed Link: 29631605

Variant Present in the following documents:

• Main text
• 13023_2018_Article_792.pdf

View BVdb publication page