Now showing items 1-2 of 2

    • Krall, Paola; Nualart, Daniela; Grandy, Jean (Sociedad Médica de Santiago, 2018)
      Nephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, with a common variant that consists of a 57kb-deletion involving CTNS. Patients with NC that are treated with cysteamine ...
    • Valenzuela Nieto, Guillermo; Jara, Ronald; Watterson, Daniel; Modhiran, Naphak; Amarilla, Alberto A.; Himelreichs, Johanna; Khromykh, Alexander A.; Salinas Rebolledo, Constanza; Pinto, Teresa; Cheuquemilla, Yorka; Margolles, Yago; López González del Rey, Natalia; Miranda Chacón, Zaray; Cuevas, Alexei; Berking, Anne; Deride, Camila; González Moraga, Sebastián; Mancilla, Héctor; Maturana, Daniel; Langer, Andreas; Toledo, Juan Pablo; Müller, Ananda; Uberti, Benjamín; Krall, Paola; Ehrenfeld, Pamela; Blesa, Javier; Chana Cuevas, Pedro; Rehren, Germán; Schwefel, David; Fernández, Luis Ángel; Rojas Fernández, Alejandro (Nature, 2021)
      Despite unprecedented global efforts to rapidly develop SARS-CoV-2 treatments, in order to reduce the burden placed on health systems, the situation remains critical. Effective diagnosis, treatment, and prophylactic ...