Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood |
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| Authors: | Clara D. van Karnebeek,William S. Sly,Colin J. Ross,Ramona Salvarinova,Joy Yaplito-Lee,Saikat Santra,Casper Shyr,Gabriella A. Horvath,Patrice Eydoux,Anna M. Lehman,Virginie Bernard,Theresa Newlove,Henry Ukpeh,Anupam Chakrapani,Mary Anne Preece,Sarah Ball,James Pitt,Hilary D. Vallance,Marion Coulter-Mackie,Hien Nguyen,Lin-Hua Zhang,Amit P. Bhavsar,Graham Sinclair,Abdul Waheed,Wyeth W. Wasserman,Sylvia Stockler-Ipsiroglu |
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| Affiliation: | 1 Division of Biochemical Diseases, BC Children’s Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada;2 Department of Pediatrics, BC Children’s Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada;3 Treatable Intellectual Disability Endeavour in British Columbia, BC Children’s Hospital, University of British Columbia, Vancouver, BC V5Z 4H4, Canada;4 Center for Molecular Medicine and Therapeutics, Child and Family Research Institute, BC Children’s Hospital, University of British Columbia, Vancouver, BC V5Z 4H4, Canada;5 Department of Medical Genetics, BC Children’s Hospital, University of British Columbia, Vancouver, BC V6H 3N1, Canada;6 Department of Psychology, BC Children’s Hospital, University of British Columbia, Vancouver, BC V6H 3N1, Canada;7 Biochemical Genetics Laboratory, BC Children’s Hospital, University of British Columbia, Vancouver, BC V6H 3N1, Canada;8 Department of Pathology & Laboratory Medicine, BC Children’s Hospital, University of British Columbia, Vancouver, BC V6H 3N1, Canada;9 Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, St. Louis, MO 63104, USA;10 Metabolic Genetics, Murdoch Childrens Research Institute, Royal Children’s Hospital, Parkville, VIC 3052, Australia;11 Department of Clinical Inherited Metabolic Disorders, Birmingham Children’s Hospital, Birmingham B4 6NH, UK;12 Department of Newborn Screening and Biochemical Genetics, Birmingham Children’s Hospital, Birmingham B4 6NH, UK;13 Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia |
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