An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Kazi, Zoheb B ZB; Desai, Ankit K AK; Troxler, R Bradley RB; Kronn, David D; Packman, Seymour S; Sabbadini, Marta M; Rizzo, William B WB; Scherer, Katalin K; Abdul-Rahman, Omar O; Tanpaiboon, Pranoot P; Nampoothiri, Sheela S; Gupta, Neerja N; Feigenbaum, Annette A; Niyazov, Dmitriy M DM; Sherry, Langston L; Segel, Reeval R; McVie-Wylie, Alison A; Sung, Crystal C; Joseph, Alexandra M AM; Richards, Susan S; Kishnani, Priya S PS
Publication Date: 2019-04
Variant appearance in text: GAA: 2456G>C; Arg819Pro
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Nature Communications
Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G
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: 2456G>C; Arg819Pro