Browsing by Author "Arza, Arantza"

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

      De las Heras Montero, Javier Adolfo; Cano San José, Ainara; Vinuesa Jaca, Ana; Montes, Marta; Unceta Suárez, María; Arza, Arantza; Jiménez, Saioa; Vera de Pedro, Elena; Del Hoyo Moracho, Marta; Gendive, Miriam; Aguirre, Lizar; Muñoz García, Gisela Cristina; Fernández, Javier; Ruiz Espinoza, Cynthia; Fernández, María Ángeles; Galdeano Miranda, José Miguel; Rodríguez, Irene; Román Echevarría, Lourdes; Rodríguez Serna, Amaya; Loureiro, Begoña; Astigarraga Aguirre, María Iciar (MDPI, 2021-11-09)
      Abstract 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 ...