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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis: Molecular Therapy Methods & Clinical Development
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CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness | Scientific Reports
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
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IJTM | Free Full-Text | The Action of Recombinant Human Lysosomal α-Glucosidase (rhGAA) on Human Liver Glycogen: Pathway to Complete Degradation
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Prevalence of late-onset pompe disease in Portuguese patients with diaphragmatic paralysis – DIPPER study | Pulmonology
Sanofi's Humanitarian Programs Help Patients Worldwide
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CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness | Scientific Reports
IJMS | Free Full-Text | Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease
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GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease | Aging
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