Title : Rare Disease Day 2018
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Rare Disease Day 2018
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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.
- 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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