The emerging phenotype of long-term survivors with infantile Pompe disease
Sean N. Prater, S. Banugaria, Stephanie M. Dearmey, et al.. (2012). Genetics in Medicine. Cited 184 times. https://doi.org/10.1038/gim.2012.44
Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience
Deeksha S. Bali, J. Goldstein, S. Banugaria, et al.. (2012). American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Cited 126 times. https://doi.org/10.1002/ajmg.c.31319
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
Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.
An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions.