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GAA gene

Discuss publications and research concerning the GAA gene.

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Related literature

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.
GAA
Generation of Friedreich's ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutation.
GAA
Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS.
GAA
A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's Disease.
GAA
Pompe Disease: A Review of Diagnosis, Molecular Genetics, and Treatment Management.
GAA
Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation.
GAA
Predicting the phenotype of Pompe Disease from features of GAA variants.
GAA
Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing.
GAA
From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease.
GAA
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
GAA

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