Publications:

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.

Journal Of Clinical Medicine

Thuriot, Fanny F; Gravel, Elaine E; Hodson, Katherine K; Ganopolsky, Jorge J; Rakic, Bojana B; Waters, Paula J PJ; Gravel, Serge S; Lévesque, Sébastien S

Publication Date: 2021-08-28

Variant appearance in text: GAA: 706delG; Val236fs

PubMed Link: 34501319

Variant Present in the following documents:

• Main text
• jcm-10-03868.pdf

View BVdb publication page

Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.

Frontiers In Immunology

De Groot, Anne S AS; Desai, Ankit K AK; Lelias, Sandra S; Miah, S M Shahjahan SMS; Terry, Frances E FE; Khan, Sundos S; Li, Cindy C; Yi, John S JS; Ardito, Matt M; Martin, William D WD; Kishnani, Priya S PS

Publication Date: 2021

Variant appearance in text: GAA: 706delG

PubMed Link: 34220802

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page