Genetic / Metabolic Resources
Useful Web Sites for Clinical Practice
http://bit.ly/1F22plb
provides guidelines and ACT sheets for metabolic newborn management (you can google ACT sheets). This is your first step if a newborn screen is abnormal.
http://newenglandconsortium.org/
(acute illness protocols for metabolic diseases)
www.genetests.org
a great reference for genetic syndromes (provides management guidelines)
https://www.clinicaltrials.gov/
allows searching the latest clinical trials
http://compbio.charite.de/phenomizer/
Phenomizer - a genetics search engine:
http://www.ncbi.nlm.nih.gov/gtr/
A Genetic Testing Registry
https://www.aap.org/en-us/about-the-aap/Councils/Genetics/Pages/COG.aspx
(AAP policy statements)
www.rarechromo.org
has pamphlets for specific microdeletion/ duplication syndromes