Associated Papers
Metabolic and proteomic profiles provide insights on mechanism of late onset Pompe disease.
Lu Y et al.
Molecular Genetics and Metabolism, 2025
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
Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.
Chumakova OS et al.
Genes, 2023
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A et al.
Molecular Genetics and Metabolism Reports, 2023
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
Hernández-Arévalo P et al.
Orphanet Journal of Rare Diseases, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Skeletal muscle metabolism during prolonged exercise in Pompe disease.
Preisler N et al.
Endocrine Connections, 2017
Infantile Pompe disease: A case report and review of the Chinese literature.
Liu Y et al.
Experimental and Therapeutic Medicine, 2016
Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.
Er TK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
[Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].
Liu Q et al.
Zhonghua Yi Xue Za Zhi, 2013
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
Niño MY et al.
Jimd Reports, 2013
A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.
Seppälä EH et al.
Plos One, 2013
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Kroos M et al.
Human Mutation, 2012
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M et al.
Human Mutation, 2008