Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.
Makhijani N et al.
Molecular Genetics and Metabolism, 2025
Outside the fiber: Endomysial stromal and capillary pathology in skeletal muscle may impede infusion therapy in infantile-onset Pompe disease.
Buckley AF et al.
Journal of Neuropathology and Experimental Neurology, 2023
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS et al.
Frontiers in Immunology, 2021
34220802 (PubMed )
Supplement: DataSheet_1.pdf
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