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Proteomic Profiling of Angelman Syndrome for Disease-associated Biomarker Discovery

Author:Hawtin, Rachael   Couthouis, Julien   Khan, Showkhin   Wang, Grace   Panagoulias, Jennifer   Gold, Larry   Daugherty, Sean   Kunecki, Dariusz   Berry-Kravis, Elizabeth   Berent, Allyson   

Session Name:P8: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P8.001  

Author Institution:Ultragenyx Pharmaceutical Inc., Novato, CA  Foundation for Angelman Syndrome Therapeutics, Austin, TX  SomaLogic Operating Co., Inc., Boulder, CO  Rush University Medical Center, Chicago, IL  

Clinical Characteristics of Creatine Transporter Deficiency (CTD): Final Results of the Vigilan Observational Study

Author:Brandabur, Melanie   Bianconi, Simona   Anselm, Irina   Barshop, Bruce A.   Berry-Kravis, Elizabeth   Koeberl, Dwight D   Cecil, Kim M   Hannah-Shmouni, Fady   Longo, Nicola   Mercimek-Andrews, Saadet   Porter, Forbes D   Rahhal, Samar   Sutton, Reid   Blair, Susan   Cimms, Tricia   Zhang, Lin   Farmer PhD, Cristan   Thurm, Audrey   Miller, Judith   

Session Name:P8: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P8.002  

Author Institution:Ultragenyx Pharmaceutical Inc, Novato, CA  National Institutes of Health, Bethesda, MD  Boston Children's Hospital, Boston, MA  University of California San Diego, La Jolla, CA  Rush University Medical Center, Chicago, IL  Duke University, Durham, NC  Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH  University of Utah, Salt Lake City, UT  , University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada  Eunice Kennedy Shriver National Institute of Child Health and Human Development, Rockville, MD  Baylor College of Medicine, Houston, TX  National Institute of Mental Health, Bethesda, MD  The Children’s Hospital of Philadelphia, Philadelphia, PA  

Case of Shapiro Syndrome in a Pediatric Patient with TUBA1A Gene Mutation

Author:Ermekbaeva, Aizara   Slattery, Jaclyn   Azam, Asma   Iheagwara, Kelechi   Shah, Yash   

Session Name:P8: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P8.004  

Author Institution:Tulane School of Medicine, New Orleans, LA  Our Lady of the Lake Children Health, Baton Rouge, LA  

A Case of Mucopolysaccharidosis Type 1 with Associated Papilledema Respondent to Therapy

Author:Roblow, Sarah   Murguia Fuentes, Ricardo   Riel-Romero, Rosario Maria   

Session Name:P8: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P8.005  

Author Institution:Louisiana State University School of Medicine in Shreveport, Shreveport, LA  

Autism in SLC6A1 Neurodevelopmental Disorder: Insights into Severity and Adaptive Skills Disruption

Author:Varnet, Marie   Dahshi, Hamza   Goodspeed, Kimberly   

Session Name:P8: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P8.006  

Author Institution:UT Southwestern Medical Center, Dallas, TX