Article
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2015
Berrier Kathryn L, Kazi Zoheb B, Prater Sean N, Bali Deeksha S, Goldstein Jennifer, Stefanescu Mihaela C, Rehder Catherine W, Botha Eleanor G, Ellaway Carolyn, Bhattacharya Kaustuv, Tylki-Szymanska Anna, Karabul Nesrin, Rosenberg Amy S, Kishnani Priya S
Abstract excerpt
PURPOSE: Enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) prolongs survival in infantile Pompe disease (IPD). However, the majority of cross-reactive immunologic material (CRIM)-negative (CN) patients have immune responses with significant clinical decline despite continued ERT. We aimed to characterize immune responses in CN patients with IPD receiving ERT monotherapy. METHODS:...
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