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American Journal of Human Genetics|February 18, 2014
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhoodClara D van Karnebeek, William S Sly, Colin J Ross, et al.The New England Journal of Medicine|June 9, 2016
Exome Sequencing and the Management of Neurometabolic DisordersMaja Tarailo-Graovac, Casper Shyr, Colin J Ross, et al.Pageof 3