Pompe Disease: Newborn Screening Initiative in the US
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.
MPS I disease: phenotypes and considerations for newborn screening
Stephanie Cagle presents on MPS I disease.
Amy Yang, MD, FACMG — Newborn Screening for Pompe Disease: Lessons Learned from New York (SERN/SERGG 2017)
Dr. Amy Yang presents “Newborn Screening for Pompe Disease: Lessons Learned from New York”
Melissa Wasserstein, MD — Lysosomal Storage Diseases: A Pilot NBS and Examination of the Associated Ethical, Legal and Social Issues (SERN/SERGG 2013)
Dr. Wasserstein presents on Lysosomal Storage Diseases.
William Wilcox, MD, PhD — Pompe Roundtable Discussion (SERN/SERGG 2015)
Dr. Wilcox moderates a panel discussion comprised of Dr. Deeksha Bali, Ms. Andrea Atherton, and Ms. Emily Lisi.
Alex Kemper, MD, MS, MPH — Newborn Screening for MPS I: Evidence and Rationale (SERN/SERGG 2015)
Dr. Kemper presents Newborn Screening for MPS I: Evidence and Rationale.
Deeksha Bali, PhD, FACMG — Diagnostic confirmation of Pompe Disease: experience of a clinical laboratory (SERN/SERGG 2015)
Dr. Bali presents Diagnostic confirmation of Pompe Disease: experience of a clinical laboratory.