MCADD Summit Video – Introduction
This video is a recording of the MCADD Summit that took place on 2.25.2023, which was jointly organized by MNT4P and SERN. This video is part 1 of a 3 … More →
MCADD Summit Video – Medical Commentary
This video is a recording of the MCADD Summit that took place on 2.25.2023, which was jointly organized by MNT4P and SERN. This video is part 2 of a 3 … More →
MCADD Summit Video – Nutritional Management
This video is a recording of the MCADD Summit that took place on 2.25.2023, which was jointly organized by MNT4P and SERN. This video is part 3 of a 3 … More →
Pathway to Newborn Screening Facilitated by Collaborations with a Parent Organization A Case Scenario: GAMT Deficiency
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 →
Meg Comeau, MHA — State Statutes and Legislation Related to Coverage of Dietary Treatments of Heritable Disorders (SERN/SERGG 2017)
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
Kirk L. Pappan, PhD — Using Clinical Metabolomics to Screen for Inborn Errors of Metabolism (SERN/SERGG 2017)
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.
Sarah Young, PhD — Diagnosing Creatine Deficiency Syndromes (SERN/SERGG 2015)
Dr. Sarah Young presents, Diagnosing Creatine Deficiency Syndromes.
Hans Andersson, MD — Phenylalanine Hydroxylase Deficiency ACMG Practice Guidelines (SERN/SERGG 2014)
Paideep Atwal, MD, FRCP (UK), FACMG — Clinical Metabolomic Profiling (SERN/SERGG 2016)
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.
Amy Cunningham, RD, LDN, MS — Recommendations for the Nutrition Management of Phenylalanine Hydroxylase Deficiency (SERN/SERGG 2014)
Amy Cunningham talks about newly released SERC/GMDI PKU Nutrition Management Guidelines.
Sarah Elsea, PhD, FACMG — Metabolomics for the Screening and Diagnosis of Rare Disease (SERN/SERGG 2016)
Dr. Elsea presents, “Metabolomics for the Screening and Diagnosis of Rare Disease”
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”
Nicola Longo, MD, PhD — Carnitine and Fatty Acid Oxidation (SERN/SERGG 2016)
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”