Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience

Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improve...

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Detalles Bibliográficos
Autores principales: de las Heras, Javier, Cano, Ainara, Vinuesa, Ana, Montes, Marta, Unceta Suarez, María, Arza, Arantza, Jiménez, Saioa, Vera, Elena, del Hoyo, Marta, Gendive, Miriam, Aguirre, Lizar, Muñoz, Gisela, Fernández, Javier, Ruiz-Espinoza, Cynthia, Fernández, María Ángeles, Galdeano, José Miguel, Rodríguez, Irene, Román, Lourdes, Rodríguez-Serna, Amaya, Loureiro, Begoña, Astigarraga, Itziar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620435/
https://www.ncbi.nlm.nih.gov/pubmed/34828739
http://dx.doi.org/10.3390/children8111026

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