Resource Details

The Story Of Phenylketonuria And The Path To Treatment

07/18/2023 8:44am
New England Regional Genetics Network (NERGN),Weitzman Institute

At the end of this session, participants will be able to:

Identify the milestones that lead to interest in intellectual disability syndromes and the discovery of PKU
Understand how newborn screening began and evolved, and the impact of newborn screening
Review the path to treatment and prevention of intellectual disability in affected individuals
Discuss conventional dietary therapy and novel therapies for PKU, as well as new treatments in clinical trials

The presentation slides are available at:


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