Associated Papers
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
39020067 (PubMed )
Supplement: 41431_2024_1656_MOESM1_ESM.xls › Table_1
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Nunes Campos L et al.
Cureus, 2024
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
40225932 (PubMed )
Supplement: 6248437.f2.xlsx › Supplementary_Table_S3
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.
Tarallo A et al.
Embo Molecular Medicine, 2021
Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.
Buratti E et al.
Molecular Therapy. Methods & Clinical Development, 2021
Exome Sequencing in Individuals with Isolated Biliary Atresia.
Rajagopalan R et al.
Scientific Reports, 2020
32066793 (PubMed )
Supplement: 41598_2020_59379_MOESM2_ESM.xlsx › Supp.Table_2_all_variants
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
Gupta N et al.
The Journal of Pediatrics, 2020
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
Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.
Chen X et al.
Genetic Testing and Molecular Biomarkers, 2017
A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
Dou W et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
Pittis MG et al.
American Journal of Medical Genetics. Part A, 2003
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