Kidney Failure Secondary to Hereditary Xanthinuria due to a Homozygous Deletion of the XDH Gene in the Absence of Overt Kidney Stone Disease.

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作者： Pedro Lisboa,Gonçalves ^[1] ; Hugo,Diniz ^[1] ; Isabel,Tavares ^[2] ; Sofia,Dória ^[3] ; Juan,Dong ^[4] ; McKenna,Kyriss ^[4] ; Lynette,Fairbanks ^[5] ; João Paulo,Oliveira ^[6]

作者单位： Department of Nephrology, São João University Hospital Centre, Porto, Portugal. ^[1] Department of Nephrology, São João University Hospital Centre, Porto, Portugal.;Group of Research and Development in Nephrology and Infectious Diseases, i3S - Institute for Health Research and Innovation, University of Porto, Porto, Portugal.;Department of Medicine, Faculty of Medicine, University of Porto, Porto, Portugal. ^[2] Unit of Genetics, Department of Pathology, Faculty of Medicine, University of Porto, Porto, Portugal. ^[3] PreventionGenetics, LLC, an Exact Sciences Co., Marshfield, Wisconsin, USA. ^[4] Purine Research Laboratory, Viapath, St Thomas' Hospital, London, UK. ^[5] Group of Research and Development in Nephrology and Infectious Diseases, i3S - Institute for Health Research and Innovation, University of Porto, Porto, Portugal.;Unit of Genetics, Department of Pathology, Faculty of Medicine, University of Porto, Porto, Portugal.;Service of Medical Genetics, São João University Hospital Centre, Porto, Portugal. ^[6]

关键词 Hereditary xanthinuria Hypouricemia Kidney failure XDH gene deletion Xanthine dehydrogenase deficiency