Predicting Cross Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned from 10 Years of Clinical Laboratory Testing Experience

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-negati...

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Autores principales: Bali, Deeksha S., Goldstein, Jennifer L., Banugaria, Suhrad, Dai, Jian, Mackey, Joanne, Rehder, Catherine, Kishnani, Priya S.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2012
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3278076/
https://ncbi.nlm.nih.gov/pubmed/22252923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31319
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