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Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology by Alba Navarro-Romero, Irene Fernandez-Gonzalez, Jordi Riera, Marta Montpeyo, Merce Albert-Bayo, Tresa Lopez-Royo, Pablo Castillo-Sanchez, Clara Carnicer-Caceres, Jose Antonio Arranz-Amo, Laura Castillo-Ribelles, Eddie Pradas, Josefina Casas, Miquel Vila, Marta Martinez-Vicente
Published 2022-10-01
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Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening by Andrea Martín-Nalda, Jacques G. Rivière, Mireia Català-Besa, Marina García-Prat, Alba Parra-Martínez, Mónica Martínez-Gallo, Roger Colobran, Ana Argudo-Ramírez, Jose Luis Marín-Soria, Judit García-Villoria, Laura Alonso, Jose Antonio Arranz-Amo, Giancarlo la Marca, Pere Soler-Palacín
Published 2021-09-01
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