Article
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 - 15 Feb 2012
Bali Deeksha S, Goldstein Jennifer L, Banugaria Suhrad, Dai Jian, Mackey Joanne, Rehder Catherine, Kishnani Priya S
Abstract excerpt
Enzyme replacement therapy (ERT) for Pompe disease using recombinant acid alpha-glucosidase (rhGAA) has resulted in increased survival although the clinical response is variable. Cross-reactive immunological material (CRIM)-negative status has been recognized as a poor prognostic factor. CRIM-negative patients make no GAA protein and develop sustained high antibody titers to ERT that render the treatment...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.