Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

Journal: American Journal of Human Genetics

Published: 2019-08-07

DOI: 10.1016/j.ajhg.2019.07.015

Affiliations: 40

Authors: 33

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Institutions Share
Laboratory Genetic Metabolic Diseases (LGMD), UvA, Netherlands 0.20
CHU Sainte-Justine Research Center, Canada 0.06
UMC Section Genetics, Netherlands 0.06
Human Genetics and Genome Research Division, NRC, Egypt 0.06
Translational Metabolic Laboratory (TML), RU, Netherlands 0.06
Amsterdam Gastroenterology and Metabolism, UvA, Netherlands 0.05
Faculty of Pharmaceutical Sciences, UBC, Canada 0.05
Zebrafish Centre for Advanced Drug Discovery (ZCADD), U of T, Canada 0.04
Li Ka Shing Knowledge Institute, U of T, Canada 0.04
Keenan Research Centre for Biomedical Science, U of T, Canada 0.04
Department of Physiology, U of T, Canada 0.03
Centre for Molecular Medicine and Therapeutics (CMMT), UBC, Canada 0.03
Department of Pediatrics, RU, Netherlands 0.03
Neurosciences and Mental Health Program (NMH), SickKids U of T, Canada 0.03
Department of Medical Genetics, BC Children's Hospital, Canada 0.03
Radboudumc Amalia kinderziekenhuis, Netherlands 0.02
BC Children’s Hospital Research Institute, Canada 0.02
Princess Al Jawhara Al Ibrahim Centre for Molecular Medicine, Genetics and Inherited Disorders, AGU, Bahrain 0.02
College of Medicine and Medical Sciences, AGU, Bahrain 0.02
Radboud Center for Mitochondrial Medicine (RCMM), RU, Netherlands 0.01
Department of Medical Genetics, U of C, Canada 0.01
Alberta Children's Hospital Research Institute (ACHRI), Canada 0.01
Department of Biochemistry and Molecular Biology (BMB), U of C, Canada 0.01
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital-San Diego, United States of America (USA) 0.01
UCSF Department of Pediatrics, United States of America (USA) 0.01
UCSF Weill Institute for Neurosciences, United States of America (USA) 0.01
Department of Medicine, U of T, Canada 0
Institute of Medical Science (IMS), U of T, Canada 0
Department of Laboratory Medicine and Pathobiology (LMP), U of T, Canada 0
Department of Clinical Genetics, UvA, Netherlands 0
Department of Pediatrics, UBC, Canada 0
Department of Medical Genetics, UBC, Canada 0
Department of Pediatrics, UvA, Netherlands 0
Emma Children’s Hospital, UvA, Netherlands 0

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