Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.P690insFs
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GAA

NM_000152.5:p.P690insFs

Associated Papers

Late-onset Pompe's disease in a hemodialysis patient: A first case report.

Eleftheriadis T et al.

Hemodialysis International. International Symposium on Home Hemodialysis, 2018

Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease.

Papadopoulos C et al.

Molecular Genetics and Metabolism Reports, 2014

Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy.

Terzis G et al.

Molecular Genetics and Metabolism, 2012

Bone density in patients with late onset Pompe disease.

Papadimas G et al.

International Journal of Endocrinology and Metabolism, 2012

Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy.

Terzis G et al.

Molecular Genetics and Metabolism, 2011

Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy.

Papadimas GK et al.

Clinical Neurology and Neurosurgery, 2011

Body composition analysis in late-onset Pompe disease.

Papadimas GK et al.

Molecular Genetics and Metabolism, 2011

Functional capacity in a late-onset Pompe disease patient: Effect of enzyme replacement therapy and exercise training.

Krase AA et al.

Annals of Indian Academy of Neurology, 0

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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."