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Biomolecules | Free Full-Text | Pompe Disease: New Developments in an Old Lysosomal Storage Disorder
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Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease | EMBO Molecular Medicine
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Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase - ScienceDirect
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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations | Orphanet Journal of Rare Diseases | Full Text
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Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease | Nature Communications
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Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity - Niño - 2019 - Human Mutation - Wiley Online Library
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GAA mutation spectrums in 27 Chinese late-onset Pompe patients. All... | Download Scientific Diagram
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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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Pathophysiology of late-onset Pompe disease. Abbreviations: GAA, acid... | Download Scientific Diagram
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Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview | Current Treatment Options in Neurology
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Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database - ScienceDirect
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