Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Cindy C; Desai, Ankit K AK; Gupta, Punita P; Dempsey, Katherine K; Bhambhani, Vikas V; Hopkin, Robert J RJ; Ficicioglu, Can C; Tanpaiboon, Pranoot P; Craigen, William J WJ; Rosenberg, Amy S AS; Kishnani, Priya S PS
Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.
Frontiers In Immunology
Desai, Ankit K AK; Baloh, Carolyn H CH; Sleasman, John W JW; Rosenberg, Amy S AS; Kishnani, Priya S PS
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.
Plos One
Banugaria, Suhrad G SG; Prater, Sean N SN; Patel, Trusha T TT; Dearmey, Stephanie M SM; Milleson, Christie C; Sheets, Kathryn B KB; Bali, Deeksha S DS; Rehder, Catherine W CW; Raiman, Julian A J JA; Wang, Raymond A RA; Labarthe, Francois F; Charrow, Joel J; Harmatz, Paul P; Chakraborty, Pranesh P; Rosenberg, Amy S AS; Kishnani, Priya S PS
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