Metabolic Disorders Videos

State Statutes and Legislation Related to Coverage of Dietary Treatments of Heritable Disorders

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

Using Clinical Metabolomics to Screen for Inborn Errors of Metabolism

Dr. Pappan presents, “Using Clinical Metabolomics to Screen for Inborn Errors of Metabolism”

Newborn Screening for VLCAD and GA1 in South Carolina

Dr. Wood presents on VLCAD and GA1 newborn screening in South Carolina for the Lunch and Learn series.

New developments with fatty acid oxidation defects

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.

Diagnosing Creatine Deficiency Syndromes

Dr. Sarah Young presents, Diagnosing Creatine Deficiency Syndromes.

Phenylalanine Hydroxylase Deficiency ACMG Practice Guidelines

Clinical Metabolomic Profiling

Dr. Atwal presents, “Clinical Metabolomic Profiling”

Reliable newborn metabolic screening of NICU infants is difficult!

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.

Recommendations for the Nutrition Management of Phenylalanine Hydroxylase Deficiency

Amy Cunningham talks about newly released SERC/GMDI PKU Nutrition Management Guidelines.

Metabolomics for the Screening and Diagnosis of Rare Disease

Dr. Elsea presents, “Metabolomics for the Screening and Diagnosis of Rare Disease”

SERC/GMDI New PKU Nutrition Management Guidelines

Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and Its Measurement by Newborn Screening Programs

Dr. De Jesus presents “Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and Its Measurement by Newborn Screening Programs”

Carnitine and Fatty Acid Oxidation

Dr. Longo presents, “Carnitine and Fatty Acid Oxidation”

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”