Publications:

Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie

Kilavuz, S S; Kor, D D; Bulut, F D FD; Serbes, M M; Karagoz, D D; Altıntas, D U DU; Bisgin, A A; Seydaoğlu, G G; Mungan, H N O HNO

Publication Date: 2022-08

Variant appearance in text: GAA: Q914Pfs*30

PubMed Link: 35705384

Variant Present in the following documents:

• Main text
• main.pdf

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Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Bali, Deeksha S DS; Goldstein, Jennifer L JL; Banugaria, Suhrad S; Dai, Jian J; Mackey, Joanne J; Rehder, Catherine C; Kishnani, Priya S PS

Publication Date: 2012-02-15

Variant appearance in text: GAA: Gln914ProfsX30

PubMed Link: 22252923

Variant Present in the following documents:

• Main text

View BVdb publication page