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.

Newborn Screening for Pompe Disease: Lessons Learned from New York

Dr. Amy Yang presents “Newborn Screening for Pompe Disease: Lessons Learned from New York”

Newborn Screening, Lysosomal Storage Disease

Lysosomal Storage Diseases: A Pilot NBS and Examination of the Associated Ethical, Legal and Social Issues

Dr. Wasserstein presents on Lysosomal Storage Diseases.

Pompe Roundtable Discussion

Dr. Wilcox moderates a panel discussion comprised of Dr. Deeksha Bali, Ms. Andrea Atherton, and Ms. Emily Lisi.

Newborn Screening for MPS I: Evidence and Rationale

Dr. Kemper presents Newborn Screening for MPS I: Evidence and Rationale.

Diagnostic confirmation of Pompe Disease: experience of a clinical laboratory

Dr. Bali presents Diagnostic confirmation of Pompe Disease: experience of a clinical laboratory.