Pathway to Newborn Screening Facilitated by Collaborations with a Parent Organization A Case Scenario: GAMT Deficiency
Presenter(s): Heidi Wallis and Marzia Pasquali
Keywords: Newborn Screening, GAMT Deficiency, Parent OrganizationsPathway to Newborn Screening Facilitated by Collaborations with a Parent Organization A Case Scenario: GAMT Deficiency
As a part of the SERN Lunch and Learn series, Heidi Wallis and Marzia Pasquali, PhD, FACMG discussed how they collaborated to have GAMT (guanidinoacetate N-methyltransferase) Deficiency recommended for being added to the Recommended Uniform Screening Panel (RUSP) for newborn screening.
Date: Friday, January 28, 2022
Length: 47:34