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

• Main Authors: Javier de las Heras (Author), Ainara Cano (Author), Ana Vinuesa (Author), Marta Montes (Author), María Unceta Suarez (Author), Arantza Arza (Author), Saioa Jiménez (Author), Elena Vera (Author), Marta del Hoyo (Author), Miriam Gendive (Author), Lizar Aguirre (Author), Gisela Muñoz (Author), Javier Fernández (Author), Cynthia Ruiz-Espinoza (Author), María Ángeles Fernández (Author), José Miguel Galdeano (Author), Irene Rodríguez (Author), Lourdes Román (Author), Amaya Rodríguez-Serna (Author), Begoña Loureiro (Author), Itziar Astigarraga (Author)
• Format: Book
• Published: MDPI AG, 2021-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...