Lysosomal Storage Disease Videos

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”

Newborn Screening, Lysosomal Storage Disease

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.