Associated Papers
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
31342611 (PubMed )
Supplement: HUMU-40-2146-s001.pdf
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.
Nascimbeni AC et al.
Neurology, 2008
Late-onset GSDII with novel GAA gene mutation.
Angelini C et al.
Clinical Genetics, 2007
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