TY - GEN 
AU - Castellar-Leones S.M
AU - Ortiz-Corredor F
AU - Manrique-Hernández D
AU - Sánchez-Peñarete D
AU - Ruiz-Ospina E
AU - Soto-Peña D
AU - Correa-Arrieta C.
PY - 2024
SN - 17521947
UR - http://hdl.handle.net/10818/61860
AB - Background: Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction. Enzyme replacement therapy with recombinant human acid...
LA - eng
PB - Journal of Medical Case Reports
KW - Acid alpha-glucosidase (GAA)
KW - Enzyme replacement therapy (ERT)
KW - Lysosomal storage disorders
KW - Pompe disease
TI - Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report
DO - 10.1186/s13256-024-04638-5
ER -