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    • Newborn screening for Fabry disease in the north-west of Spain 

      Colón Mejeras, Cristóbal; Ortolano, Saida; Melcón Crespo, Cristina; Álvarez González, José Víctor; López Suárez, Olalla Elena; Couce Pico, María de la Luz; Fernández Lorenzo, José Ramón (Springer, 2017)
      Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening ...





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