Associated Papers
Screening for Pompe disease in Serbian patients with limb-girdle muscle weakness.
Sekulic A et al.
Clinical Neurology and Neurosurgery, 2025
Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.
Hussein MA et al.
Italian Journal of Pediatrics, 2025
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L11
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
Parenti G et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2014
Seven cases of Pompe disease from Greece.
Kroos M et al.
Journal of Inherited Metabolic Disease, 2006
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