CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy

Pompe disease, especially in its infantile form, is a fatal disease. Most of the patients with this disease synthesize a nonfunctional form of the enzyme alpha glucosidase (GAA), the deficient enzyme in this disease. Patients producing some amount of this protein are labeled as cross-reactive immuno...

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Hauptverfasser: Khallaf, Hamoud H. Al, Propst, Jennifer, Geffrard, Serge, Botha, Eleanor, Pervaiz, M. Ali
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2012
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565643/
https://ncbi.nlm.nih.gov/pubmed/23430560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_192
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