Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood
由CA5A改变引起的线粒体碳酸酐酶VA缺乏症,在幼儿期表现为高氨血症。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.01.006.
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