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 … More →
As a part of the SERN Lunch and Learn series, Holly Peay, Ph.D., MS, and Cynthia Powell, MD, MS discussed their research on expanding newborn screening in North Carolina for … More →
The third annual Paul M. Fernhoff Memorial Lecture was held Thursday, September 17, 2015. Dr. Philip Farrell’s keynote address is available here entitled “A Miraculous New Era for Cystic Fibrosis: … More →
Stephanie DeArmey presents “Pompe Disease: Newborn Screening Initiative in the US”. Note that due to PHI, portions of the video slides are blacked out. The audio will continue to play.
On March 1, 2010, Dr. Michael J. Bennett of The Children’s Hospital of Philadelphia presented “New developments with fatty acid oxidation defects” at Emory University’s Grand Rounds in Atlanta, GA.