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Mitochondrial Complex I Deficiency Associated with Biallelic NDUFA13 Variants Lead to Leigh Syndrome

Author:Kaiyrzhanov, Rauan   Study Group, NDUFA13   

Session Name:P11: Child Neurology and Developmental Neurology: Genetics/Metabolic/Nutritional Disorders 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P11.008  

Author Institution:South Kazakhstan Medical Academy, Astana, Kazakhstan  International collaborators, Different, United Kingdom  

Scurvy presenting with difficulties to walk and weakness in pediatric patients; 2 case reports.

Author:Railean, Anastasia   Martindale, Jaclyn   

Session Name:P11: Child Neurology and Developmental Neurology: Genetics/Metabolic/Nutritional Disorders 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P11.009  

Author Institution:Wake Forest, Lewisville , NC  Wake Forest Medical Center, Winston Salem, NC  

“Confounding Contractures” A Non-Lethal Presentation of a Lethal Disorder

Author:Mullane, Gerard   Donlon, Eoghan   Smyth, Shane   

Session Name:P11: Child Neurology and Developmental Neurology: Genetics/Metabolic/Nutritional Disorders 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P11.010  

Author Institution:Dublin Neurological Institute, Mater Misericordiae University Hospital, Dublin, Ireland  Dublin Neurological Institute, Dublin 7, Ireland  

Large-Cohort Characterization of Pediatric Small Fiber Neuropathy

Author:Mills, Alexander   Dredge, David   Klein, Madeleine   Downs, Heather   Farhad, Khosro   Klein, Max   Oaklander, Anne Louise   

Session Name:P11: Child Neurology and Developmental Neurology: Genetics/Metabolic/Nutritional Disorders 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P11.011  

Author Institution:MGH, Boston, MA  Massachusetts General Hospital, Boston, MA  Albert Einstein College of Medicine, Bronx, NY  

Disease Impact and Burden in Patients with SCN2A-Related Developmental and Epileptic Encephalopathy

Author:Dalby, Kelley   Snyder, Ted   Matthews, Lillian   Brimble, Elise   Beek, Geoffrey   Berk, Alexa   Oldham, Michael   Souza, Marcio   Petrou, Steven   

Session Name:P11: Child Neurology and Developmental Neurology: Genetics/Metabolic/Nutritional Disorders 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P11.012  

Author Institution:Praxis Precision Medicines, Boston, MA  Praxis Precision Medicines, Bostom, MA  Ciitizen, Palo Alto, CA