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Pediatrician Involvement in Communicating Positive Newborn Screening Results for Krabbe Disease: Barriers, Facilitators, and Ideas for Interventions

Author:Kirkpatrick, Laura   Friel, Erin   Muniz, Gysella   Chang, Judy   Rajan, Deepa   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.002  

Author Institution:UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA  University of Pittsburgh, Pittsburgh, PA  University of Pittsburgh, PA  Childrens Hospital of Pittsburgh, Pittsburgh, PA  

Natural History of YWHAG-associated Neurodevelopmental Disorder

Author:Morcos, Sara   Falbo, Kristin   Seltzer, Laurie   Bearden, David   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.003  

Author Institution:University of Rochester School of Medicine and Dentistry , Rochester, NY  University of Rochester School of Medicine and Dentistry, Rochester, NY  University of Rochester School of Medicine, Rochester, NY  

Prevalence of Neurological Symptoms in Pediatric and Adult Patients with Homocystinuria

Author:Betoni, Nicolo   Parke, Brittany   Talebizadeh, Zohreh   Lee, Andrew   Varnet, Marie   Xiao, Changrui   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.004  

Author Institution:Lurie Children's, Chicago, IL  HCU Network America , Parker, CO  Global Genes, Washington, DC, MD  UC Irvine, Orange, CA  University of Colorado, Dallas, TX  

Minigene Assay of an Intronic Variant to Investigate Phenotypic Variability of ATP1A3 Splice Variants

Author:Lara, Orlando   Mochida, Ganeshwaran   Yu, Timothy   Calame, Daniel   Yano, Sho   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.005  

Author Institution:University of Chicago, Chicago, IL  Boston Children’s Hospital, Boston, MA  Baylor College of Medicine, Child Neurology, Houston, TX  

When to Question Cerebral Palsy: Hereditary Spastic Paraplegia Masquerading as Cerebral Palsy

Author:Nagabushan, Swathi   Landman, Avi   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.006  

Author Institution:UCF/HCA Osceola Hospital, Kissimmee, FL  UCF/HCA Osceola Hospital, Orlando, FL