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https://phgkb.cdc.gov/GAPPKB/phgHome.do

Last Posted: Mar-24-2017 8AM

From 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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• Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.  
  Stinton Chris et al. Orphanet journal of rare diseases 2017 Mar 12(1) 48
• The need for a next-generation public health response to rare diseases.
  R Valdez et al, CDC Blog Post, February 2017
• Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.  
  Pavan Sonia et al. PloS one 2017 12(1) e0170365
• Family’s struggle with Batten disease mirrors the journey of others fighting rare diseases  
  Denver Post, January 20, 2017
• TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.  
  Kingswood John C et al. Orphanet journal of rare diseases 2017 Jan 12(1) 2

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