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1,521,077 results
  • End of life care for adults: service delivery [BOOK]
    National Institute for Health and Care Excellence (UK): London National Guideline Centre (UK) BOOK
  • This guideline covers organising and delivering end of life care services, which provide care and support in the final weeks and months of life (or for some conditions, years), and the planning and preparation for this. It aims to ensure that people have access to the care that they want and need in all care settings. It also includes advice on services for carers.
  • p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease. [Case Reports]
    Cardiology 2019; :1-6Carvalho Silva DM, Marques N, … de Jesus I
  • The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact rol…
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