Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R11delFs
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GAA

NM_000152.5:p.R11delFs

Associated Papers

Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.

van Capelle CI et al.

International Journal of Cardiology, 2018

Quantification of muscle pathology in infantile Pompe disease.

Schänzer A et al.

Neuromuscular Disorders : Nmd, 2017

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.

van Gelder CM et al.

Journal of Inherited Metabolic Disease, 2015

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.

Montagnese F et al.

Journal of Neurology, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."