732 posters, 2 sessions, 11 topics, 3542 authors, 923 institutions

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Posters

The Poster has not been submitted by the Author.

108

PRKAG2 as a Mimicker of Pompe Disease

Stephanie Austin, Stephanie Wechsler, Priya Kishnani, Rachel Torok, Chanika Phornphutkul, Kathleen Rotondo, Anne Buckley, Gregory Tatum

Duke University, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Rhode Island Hospital

Poster Presenter: Stephanie Austin

109

Study of the C1226T mutation in ACADVL: a unique Pacific variant with a mild phenotype.

Leah Dowsett, Laurie Seaver, Thomas Slavin

Kapiolani Medical Center, City of Hope

Poster Presenter: Leah Dowsett

110

Refugee Health in the United States: Need for Increased Awareness of Inborn Errors of Metabolism and Genetic Diseases

Muge Gucsavas-Calikoglu, Sara Elrefai, Julie McClure

University of North Carolina School of Medicine, University of North Carolina SOM

Poster Presenter: Muge Gucsavas-Calikoglu

111

One in 21 Billion: Cantu Syndrome and X-Linked Adrenoleukodystrophy

Veronique Weinstein, Seham Hamoud, Debra Regier

Children's National Health System

Poster Presenter: Veronique Weinstein

112

Abnormal amino acid pattern in a patient with COQ9 mutations.

Kristina Cusmano-Ozog, Carlos Ferreira

Children's National Health System

Poster Presenter: Kristina Cusmano-Ozog

The Poster has not been submitted by the Author.

113

Would double heterozygotes of MUT and MMACHC pathogenic variants present with methylmalonic acidemia? A perspective from population genetics and biostatistics

Chen-Han Wilfred Wu, Fernando Scaglia, Lee-Jun Wong

Department of Molecular and Human Genetics, Baylor College of Medicine; Department of Surgery, University of Colorado School of Medicine, Department of Molecular and Human Genetics, Baylor College of Medicine, Department of Molecular and Human Genetics, Baylor College of Medicine, Baylor Genetics

Poster Presenter: Chen-Han Wilfred Wu

The Poster has not been submitted by the Author.

114

Two cases of infantile Mitochondrial HMG-CoA synthase-2 deficiency: a rare and treatable condition

Ross Ridsdale, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Erin Conboy, Silvia Tortorelli, Dimitar Gavrilov, Eric Klee, Brendan Lanpher, Matthew Schultz, Filippo Pinto e Vario

Department of Laboratory Medicine and Pathology, Mayo Clinic, Mayo Clinic

Poster Presenter: Ross Ridsdale

The Poster has not been submitted by the Author.

115

A Case of MGAT2-CDG Confirmed by Transferrin Analysis and Serum N-glycan Profiling

Matthew Schultz, Kimiyo Raymond, Gisele Pino, James Bennett, Coleman Turgeon, Noemi Vidal-Folch, Kristen Liedtke

Department of Laboratory Medicine and Pathology, Mayo Clinic, Seattle Children's Hospital, University of Washington, Mayo Clinic

Poster Presenter: Matthew Schultz

116

Better Late Than Never in Treating DHPR Deficiency

Rebecca Ganetzky, Chaya Murali, Amanda Barone, Can Ficicioglu

Children's Hospital of Philadelphia, The Children's Hospital of Philadelphia

Poster Presenter: Rebecca Ganetzky

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Posters

PRKAG2 as a Mimicker of Pompe Disease

Study of the C1226T mutation in ACADVL: a unique Pacific variant with a mild phenotype.

Refugee Health in the United States: Need for Increased Awareness of Inborn Errors of Metabolism and Genetic Diseases

One in 21 Billion: Cantu Syndrome and X-Linked Adrenoleukodystrophy

Abnormal amino acid pattern in a patient with COQ9 mutations.

Would double heterozygotes of MUT and MMACHC pathogenic variants present with methylmalonic acidemia? A perspective from population genetics and biostatistics

Two cases of infantile Mitochondrial HMG-CoA synthase-2 deficiency: a rare and treatable condition

A Case of MGAT2-CDG Confirmed by Transferrin Analysis and Serum N-glycan Profiling

Better Late Than Never in Treating DHPR Deficiency

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