Associated Papers
Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.
Temena MA et al.
Scientific Reports, 2025
40369053 (PubMed )
Supplement: 41598_2025_1007_MOESM2_ESM.xlsx › Table_1C
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
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M et al.
Human Mutation, 2008
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
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