Associated Papers
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
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
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Herzog A et al.
Orphanet Journal of Rare Diseases, 2012
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.
Raben N et al.
Human Mutation, 1999
Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.
Shieh JJ et al.
Human Mutation, 1998
Glycogenosis type II (acid maltase deficiency).
Reuser AJ et al.
Muscle & Nerve. Supplement, 1995
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
Huie ML et al.
Human Mutation, 1994
Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.
Dagnino F et al.
Human Heredity, 0
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