Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rotem Ron"'
Autor:
Uzi Gafter, Liat Ganon, Ruth Rachamimov, Andrew Bahn, Rotem Ron, Ossie Geifman-Holtzman, Eliezer J. Holtzman, Aaron Knecht, Gerhard Burckhardt, Ben-Ami Sela, Dganit Dinour
Publikováno v:
Nephrology Dialysis Transplantation. 26:2175-2181
BACKGROUND: Hereditary renal hypouricemia may be complicated by nephrolithiasis or exercise-induced acute renal failure. Most patients described so far are of Japanese origin and carry the truncating mutation W258X in the uric acid transporter URAT1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc8d2b69e1c1949262a0a5dc50eb02f5
https://doi.org/10.1093/ndt/gfq722
https://doi.org/10.1093/ndt/gfq722
Publikováno v:
Journal of nephrology. 27(3)
Uromodulin (Tamm-Horsfall protein) is the most abundant urinary protein in healthy individuals. Despite 60 years of research, its physiological role remains rather elusive. Familial juvenile hyperuricemic nephropathy and medullary cystic kidney disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::658b0a109a706c98fbe8d39a54c1239c
https://pubmed.ncbi.nlm.nih.gov/24648000
https://pubmed.ncbi.nlm.nih.gov/24648000
Autor:
Eli J. Holtzman, Dganit Dinour, R. Leo Brady, Rotem Ron, Scott D. Cramer, Lina Romero, Nomy Levin-Iaina
Publikováno v:
The Journal of urology. 181(5)
Genetic causes of nephrolithiasis are underestimated. Primary hyperoxaluria type 2 is a rare autosomal recessive disease caused by mutations in the GRHPR gene, leading to an accumulation of oxalate and L-glycerate with recurrent kidney stone formatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acf1fbd959f4b874903dc6ed79ffbe16
https://pubmed.ncbi.nlm.nih.gov/19296982
https://pubmed.ncbi.nlm.nih.gov/19296982