Rare diseases || Updates on Specific Topics

Main|Search|PHGKB

From Guideline Database

This database contains updated guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups.

---

• Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin. 
  Published 2017
• Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.  
  Published 2015
• Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.  
  Published 2015
• Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.  
  Published 2014 ( International Union of Immunological Societies Expert Committee for Primary Immunodeficiency)
• A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.  
  Published 2014

more