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Relationship of Clinical Phenotype to GFAP Concentrations in CSF and Blood of Individuals with Alexander Disease

Author:Waldman, Amy   Joung, Joshua   Liu, Geraldine   Takanohashi, Asako   Faig, Walter   Woidill, Sarah   Narula, Sona   Vanderver, Adeline   

Session Name:P10: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P10.001  

Author Institution:Children's Hospital of Philadelphia, Philadelphia, PA  Children’s Hospital of Philadelphia, Philadelphia, PA  

MTOR Inhibition, a Potential Treatment for Leigh Syndrome? Report of Three Cases.

Author:Emmanuele, Valentina   Goldberg, Alexander   Engelstad, Kristin   Katus, Linn   Bain, Jennifer   Garvin, James   De Vivo, Darryl   Hirano, Michio   

Session Name:P10: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P10.002  

Author Institution:Columbia University Irving Medical Center, New York, NY  Columbia University Irving Medical Center, Key Biscayne, FL  

Assessment of Gross Motor Function in Alexander Disease (AxD)

Author:Gavazzi, Francesco   Kornafel, Tracy   Pierce, Samuel   Joung, Joshua   Gallison, Kathryn   Liu, Geraldine   Faig, Walter   Waldman, Amy   

Session Name:P10: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P10.003  

Author Institution:Children's Hospital of Philadelphia, Philadelphia, PA  

Severe First Presentation of Ornithine Transcarbamylase Deficiency in a Female Child Following Hyperammonemia Resolution

Author:Biso, Grace Marie   Wojcicki, Katherine   

Session Name:P10: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P10.004  

Author Institution:SUNY Upstate Medical University, Syracuse, NY  SUNY Upstate Medical Univeristy, Syracuse, NY  

A Rare Case of NAXE Gene Mutation-Related Encephalopathy Masquerading as Post-infectious Cerebellar Ataxia

Author:Hanna, Sebastian   Kung, Michael   Shah, Naman   Kalawi, Adam   Zaveri, Harshul   

Session Name:P10: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P10.005  

Author Institution:UC Irvine-CHOC Neurology, Orange, CA