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.

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• Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.  
  Cassis Linda et al. Orphanet journal of rare diseases 2015 10(1) 164
• Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.  
  Potter BK, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2013 6 (6) 6
• Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.  
  Lee J, et al. Journal of inherited metabolic disease 2014 5 (3) 3
• Austrian Newborn Screening Program: a perspective of five decades.  
  Pollak A, et al. Journal of perinatal medicine 2014 3 (2) 2
• Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.  
  Pfeil J, et al. Orphanet journal of rare diseases 2013 1

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