Pompe disease: pathogenesis, molecular genetics and diagnosis | Aging
CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease | Scientific Reports
A genetic modifier of symptom onset in Pompe disease - eBioMedicine
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis: Molecular Therapy - Methods & Clinical Development
Untitled
Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity - Niño - 2019 - Human Mutation - Wiley Online Library
Types and frequency of GAA mutations in patients with Pompe disease. | Download Table
Genetic variants in gnomAD, ClinVar (including ClinGen), Pompe DB, or... | Download Scientific Diagram
Children | Free Full-Text | Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease | Genetics in Medicine
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry - Reuser - 2019 - Human Mutation - Wiley Online Library
Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity - Niño - 2019 - Human Mutation - Wiley Online Library
Molecular study of Pompe disease in Egyptian infants | Egyptian Journal of Medical Human Genetics | Full Text
Pompe Disease More Common Than Previously Estimated, Study Finds
A genetic modifier of symptom onset in Pompe disease - eBioMedicine
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants | Orphanet Journal of Rare Diseases | Full Text
A Look at the Genetic Landscape in Pompe Disease - Rare Disease Advisor
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis: Molecular Therapy - Methods & Clinical Development
Extended Database Links Pompe Mutations to Predicted Clinical Severity
Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity - Niño - 2019 - Human Mutation - Wiley Online Library
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database - ScienceDirect
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database - ScienceDirect
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity. - Abstract - Europe PMC
Animals | Free Full-Text | Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
Children | Free Full-Text | Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population
