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 →
Keynote Address: “State Statutes and Legislation Related to Coverage of Dietary Treatments of Heritable Disorders” Meg Comeau, MHA, Catalyst Center, Boston University School of Public Health
Dr. Pappan presents, “Using Clinical Metabolomics to Screen for Inborn Errors of Metabolism”
Dr. Wood presents on VLCAD and GA1 newborn screening in South Carolina for the Lunch and Learn series.
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.
Dr. Sarah Young presents, Diagnosing Creatine Deficiency Syndromes.
Dr. Atwal presents, “Clinical Metabolomic Profiling”
On December 15, 2008, Judi Tuerck, RN, MSN presented “Reliable newborn metabolic screening of NICU infants is difficult!” at Emory University’s Department of Human Genetics Grand Rounds.
Amy Cunningham talks about newly released SERC/GMDI PKU Nutrition Management Guidelines.
Dr. Elsea presents, “Metabolomics for the Screening and Diagnosis of Rare Disease”
Dr. De Jesus presents “Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and Its Measurement by Newborn Screening Programs”
Dr. Longo presents, “Carnitine and Fatty Acid Oxidation”
Dr. Li presents: “Current and Emerging Strategies for the Treatment of Inborn Errors of Metabolism”