Enzyme Replacement Therapy (ERT) on Heart Function Changes the Outcome in Patients with Infantile-Onset Pompe Disease: A Familial History

BACKGROUND: Lysosomal acid alpha-glucosidase (GAA) deficiency, also known as Pompe disease, is an autosomal recessive disorder that leads to the accumulation of glycogen in lysosomes and cytoplasm, resulting in tissue destruction. Infantile-onset GAA deficiency is characterized by cardiomyopathy and...

Descripción completa

Detalles Bibliográficos
Autores principales: Lecis, Marco, Rossi, Katia, Guerzoni, Maria Elena, Mariotti, Ilaria, Iughetti, Lorenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957634/
https://www.ncbi.nlm.nih.gov/pubmed/36845322
http://dx.doi.org/10.1155/2023/8470341

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957634/
https://www.ncbi.nlm.nih.gov/pubmed/36845322
http://dx.doi.org/10.1155/2023/8470341

Ejemplares similares