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pro vyhledávání: '"Gowrie Balasubraminiam"'
Autor:
Kendrah Kidd, Benjamin Cochran, Angela G Niehaus, Stanislav Kmoch, Alex Bonnecaze, Anthony J. Bleyer, Tereza Kovačíková, Gowrie Balasubraminiam, Amret T. Hawfield, Martina Živná, Aleš Hnízda, Kateřina Hodaňová, Irene Ceballos-Picot
Publikováno v:
Clinical Nephrology. 90:296-301
Adenine phosphoribosyltransferase (APRT) deficiency (OMIM #614723) is a rare autosomal recessive defect in the purine salvage pathway that causes excessive production of 2,8-dihydroxyadenine, leading to nephrolithiasis and chronic kidney disease (CKD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ce252ada074c25c7639df86dc2e98db
https://doi.org/10.5414/cn109460
https://doi.org/10.5414/cn109460
