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

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Posters

The Poster has not been submitted by the Author.

69

The Role of Proteotoxicity In the Pathogenesis Of NGLY1 Deficiency

Miao He, Marni Falk, Xueli Li, Jianping Kong, Min Peng, David Fan, Yair Argon

The Children's Hospital of Pennsylvania

Poster Presenter: Miao He

70

Biomarkers of Oxidative Stress, Inflammation, and Vascular Dysfunction in Inherited Cystathionine β-synthase Deficient Homocystinuria and the Impact of Taurine Treatment

Johan Van Hove, Tina Cowan, Elaine Spector, Kathryn Kronquist, Sarah Young, Cynthia Freehauf, Kenneth MacLean, Can Ficicioglu, Loren Del Mar Pena, Hua Jiang, Kerrie Moreau, Thomas Henthorn, Uwe Christians, Michelle Hite, Marisa Friederich, Sally Stabler, Janet Thomas, Peggy Emmett

University of Colorado School of Medicine, Stanford University, University of Colorado, Duke University, Children's Hospital Philadelphia, Children's Hospital Colorado

Poster Presenter: Johan Van Hove

71

Safety and Efficacy of Glycerol Phenylbutyrate for Management of Urea Cycle Disorders in Patients Aged 2 Months to 2 Years

Susan Berry, Jerry Vockley, Nicola Longo, Beth Robinson

University of Minnesota, University of Pittsburgh, University of Utah, Horizon Pharma

Poster Presenter: Susan Berry

72

Endothelial dysfunction and the effect of arginine and citrulline supplementation in children with mitochondrial diseases: interim results

Ayman El-Hattab, Noha Al Zaabi, Jozef Hertecant, Fatma Al Jasmi

Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Tawam Hospital

Poster Presenter: Ayman El-Hattab

73

Fatal Presentation of Late-Onset Ornithine Transcarbamylase Deficiency (OTCD) After Treatment of Acute Lymphoblastic Leukemia (ALL) with Peg-Asparaginase

Everett Lally, Megan Peters, Janine Zee-Cheng, Jennifer Orozco, Jessica Scott-Schwoerer

Poster Presenter: Everett Lally

74

Congenital disorder of glycosylation secondary to ALG6 mutation: first case report of a child presenting with large venous sinus thrombosis with severe hemorrhagic infarction

Erica Fernandes, Raymond Lewandowski

Virginia Commonwealth University

Poster Presenter: Erica Fernandes

The Poster has not been submitted by the Author.

75

Positive Response To Infliximab In A Patient With Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

AHMAD ALHARIRI, Jerry Vockley, Abbe de Vallejo, Daniel Kietz, Henry Mroczkowski

Children's Hospital of Pittsburgh

Poster Presenter: AHMAD ALHARIRI

76

Glucosylsphingosine: A Timely Biomarker for Gaucher Disease

Gisele Pino, Dietrich Matern, Sara Minnich, Kimiyo Raymond, April Studinski, Amy White, Dawn Peck

Department of Laboratory Medicine and Pathology, Mayo Clinic

Poster Presenter: Gisele Pino

77

Mutational Analysis of Sequence Variants in GCDH: Frequency of Variants in NBS-Positive Versus Symptomatic Patients.

Elaine Spector, Naomi Meeks, Kathryn Kronquist, Benjamin Apple, Hung-Chun Yu, Michael Woontner, Stephen Goodman

University of Colorado, University of Colorado School of Medicine,, Univ of Colorado, Children's Hospital, Human Longevity, Inc.

Poster Presenter: Elaine Spector