Publications (37) Saida Ortolano . publications

2017

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

    European Journal of Pediatrics, Vol. 176, Núm. 8, pp. 1075-1081

2016

  1. Frailty in mouse ageing: A conceptual approach

    Mechanisms of Ageing and Development, Vol. 160, pp. 34-40

  2. Small molecules: Substrate inhibitors, chaperones, stop-codon read through, and beyond

    Journal of Inborn Errors of Metabolism and Screening, Vol. 4

2014

  1. Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease

    Molecular Brain, Vol. 7, Núm. 1

  2. Treatment of lysosomal storage diseases: Recent patents and future strategies

    Recent Patents on Endocrine, Metabolic and Immune Drug Discovery, Vol. 8, Núm. 1, pp. 9-25

2013

  1. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

    Brain, Vol. 136, Núm. 5, pp. 1508-1517

  2. tPA in the central nervous system: Relations between tPA and cell surface LRPs

    Recent Patents on Endocrine, Metabolic and Immune Drug Discovery, Vol. 7, Núm. 1, pp. 65-76