Pompe Disease More Common Than Previously Estimated, Study Finds
PDF) 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
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database - ScienceDirect
A genetic modifier of symptom onset in Pompe disease - eBioMedicine
Screening chimeric GAA variants in preclinical study results in hematopoietic stem cell gene therapy candidate vectors for Pompe disease: Molecular Therapy - Methods & Clinical Development
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database - ScienceDirect
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry - Reuser - 2019 - Human Mutation - Wiley Online Library
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis: Molecular Therapy - Methods & Clinical Development
Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity - Niño - 2019 - Human Mutation - Wiley Online Library
A Look at the Genetic Landscape in Pompe Disease - Rare Disease Advisor
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
The GAA gene homepage - Global Variome shared LOVD
JCM | Free Full-Text | Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots
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Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices | Neurology Genetics
Pompe disease: pathogenesis, molecular genetics and diagnosis | Aging
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience | European Journal of Human Genetics
Extended Database Links Pompe Mutations to Predicted Clinical Severity
Animals | Free Full-Text | Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
Pompe disease: pathogenesis, molecular genetics and diagnosis | Aging
Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity - Niño - 2019 - Human Mutation - Wiley Online Library
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
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
Molecular study of Pompe disease in Egyptian infants | Egyptian Journal of Medical Human Genetics | Full Text
Pompe Disease - Symptoms, Causes, Treatment | NORD
