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.
Marzia Pasquali, PhD, FACMG — Newborn Screening for GAMT Deficiency: The Utah Experience (SERN/SERGG 2016)
Dr. Pasquali presents, “Newborn Screening for GAMT Deficiency: The Utah Experience”
Victor DeJesus, PhD — Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and Its Measurement by Newborn Screening Programs (SERN/SERGG 2016)
Dr. De Jesus presents “Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and Its Measurement by Newborn Screening Programs”
The Longitudinal Pediatric Data Resource: Accelerating New Knowledge Discovery and Public Health Surveillance in Genetic Disorders Identified Through Newborn Screening.
Dr. Brower presents, “The Longitudinal Pediatric Data Resource: Accelerating New Knowledge Discovery and Public Health Surveillance in Genetic Disorders Identified Through Newborn Screening.”
Implementation of Newborn Screening for SCID
Dr. Carla Cuthbert gives a brief overview of Severe Combined Immunodeficiency (SCID), its addition to the Recommended Uniform Newborn Screening Panel, and the CDC’s role in the implementation of SCID … More →
Cynthia Powell, MD, MS — Genomics and Newborn Screening (SERN/SERGG 2015)
Dr. Powell presents Genomics and Newborn Screening.
Nicola Longo, MD, PhD — Carnitine and Fatty Acid Oxidation (SERN/SERGG 2016)
Dr. Longo presents, “Carnitine and Fatty Acid Oxidation”
Alex Kemper, MD, MS, MPH — Considering Newborn Screening for X-linked Adrenoleukodystrophy (SERN/SERGG 2016)
Dr. Kemper presents “Considering Newborn Screening for X-linked Adrenoleukodystrophy”
Current and Emerging Strategies for the Treatment of Inborn Errors of Metabolism
Dr. Li presents: “Current and Emerging Strategies for the Treatment of Inborn Errors of Metabolism”