Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report

Abstract 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 alpha-glucosidase is the standard of care; however, som...

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Detalhes bibliográficos

Principais autores:	Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-07-01
coleção:	Journal of Medical Case Reports
Assuntos:	Pompe disease Enzyme replacement therapy (ERT) Acid alpha-glucosidase (GAA) Lysosomal storage disorders
Acesso em linha:	https://doi.org/10.1186/s13256-024-04638-5
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