- 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
- Familys 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
domingo, 26 de marzo de 2017
Rare diseases ► https://phgkb.cdc.gov/GAPPKB/phgHome.do | Rare diseases
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.