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Title : Rare diseases || Updates on Specific Diseases
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Rare diseases || Updates on Specific Diseases

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From Genomics & Health Impact Scan Database

This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.

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• Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin. 
  Manna Raffaele et al. Internal and emergency medicine 2017 Jul
• Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.  
  Cismondi Inés Adriana et al. Biochim. Biophys. Acta 2015 Jun 24.
• Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.  
  O'Byrne J J et al. Ir J Med Sci 2015 Apr 21.
• Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.  
  Al-Herz W, et al. Frontiers in immunology 2014 5
• A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.  
  Cornel MC, et al. European journal of human genetics : EJHG 2014 1 (1) 1

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