Browsing Artículos by Author "Román Echevarría, Lourdes"

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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 ...
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      NMR-based newborn urine screening for optimized detection of inherited errors of metabolism 

      Embade, Nieves; Cannet, Claire; Diercks, Tammo; Gil Redondo, Rubén; Bruzzone, Chiara; Ansó Olivan, Sara; Román Echevarría, Lourdes; Martínez Ayucar, María De Las Mercedes; Collazos, Laura; Lodoso, Blanca; Guerra, Eneritz; Asla Elorriaga, Izaskun; Kortajarena, Miguel Ángel; Pérez Legorburu, Alberto; Fang, Fang; Astigarraga Aguirre, María Iciar; Schaefer, Hartmut; Spraul, Manfred; Millet Aguilar-Galindo, Oscar (Nature Publishing, 2019-09-10)
      Inborn errors of metabolism (IEMs) are rare diseases produced by the accumulation of abnormal amounts of metabolites, toxic to the newborn. When not detected on time, they can lead to irreversible physiological and ...