Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.V867_L868Fs
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GAA

NM_000152.5:p.V867_L868Fs

Associated Papers

Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.

Domínguez-González C et al.

Neuromuscular Disorders : Nmd, 2026

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.

Ditters IAM et al.

Biomolecules, 2023

37759814 (PubMed )
Supplement: biomolecules-13-01414-s001.zip › Supplementary_Table_S1.pdf

Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.

Figueroa-Bonaparte S et al.

Scientific Reports, 2018

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

Figueroa-Bonaparte S et al.

Plos One, 2016

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

Gutiérrez-Rivas E et al.

Neuromuscular Disorders : Nmd, 2015

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.

Gort L et al.

Molecular Genetics and Metabolism, 0

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

Fernández-Simón E et al.

Molecular Genetics and Metabolism, 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."