Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.A844_L847del0
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GAA

NM_000152.5:p.A844_L847del0

Associated Papers

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Mongini T et al.

Journal of Neurology, 2025

Clinical and therapeutic clues from a long-term follow-up: a single center experience on a large LOPD population.

Pugliese A et al.

Journal of Neurology, 2025

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Reuser AJJ et al.

Human Mutation, 2019

Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis.

Musumeci O et al.

European Journal of Neurology, 2019

Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.

Pichiecchio A et al.

Journal of Neurology, 2017

Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD).

Montagnese F et al.

Journal of Inherited Metabolic Disease, 2016

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

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.

Nascimbeni AC et al.

Neurology, 2008

Frequency of Cerebrovascular Abnormalities in Patients with Late-Onset Pompe Disease: Our Experience.

Sancricca C et al.

Journal of Neuromuscular Diseases, 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."