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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1970 1
1976 1
1978 2
1980 1
1982 1
1983 1
1986 2
1987 2
1988 1
1989 5
1990 2
1991 6
1992 1
1993 3
1994 8
1995 9
1996 3
1997 4
1998 7
1999 5
2000 4
2001 10
2002 5
2003 4
2004 5
2005 9
2006 6
2007 3
2008 4
2009 14
2010 7
2011 11
2012 8
2013 11
2014 10
2015 17
2016 13
2017 14
2018 14
2019 17
2020 19
2021 27
2022 25
2023 23
2024 8

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310 results

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Page 1
Genetics of kidney stone disease.
Howles SA, Thakker RV. Howles SA, et al. Nat Rev Urol. 2020 Jul;17(7):407-421. doi: 10.1038/s41585-020-0332-x. Epub 2020 Jun 12. Nat Rev Urol. 2020. PMID: 32533118 Review.
Studies suggest that the prevalence of monogenic kidney stone disorders, including renal tubular acidosis with deafness, Bartter syndrome, primary hyperoxaluria and cystinuria, in patients attending kidney stone clinics is 15%. ...
Studies suggest that the prevalence of monogenic kidney stone disorders, including renal tubular acidosis with deafness, Bartter syndrome, …
Haemolytic uraemic syndrome.
Michael M, Bagga A, Sartain SE, Smith RJH. Michael M, et al. Lancet. 2022 Nov 12;400(10364):1722-1740. doi: 10.1016/S0140-6736(22)01202-8. Epub 2022 Oct 19. Lancet. 2022. PMID: 36272423 Review.
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Groothoff JW, Metry E, Deesker L, Garrelfs S, Acquaviva C, Almardini R, Beck BB, Boyer O, Cerkauskiene R, Ferraro PM, Groen LA, Gupta A, Knebelmann B, Mandrile G, Moochhala SS, Prytula A, Putnik J, Rumsby G, Soliman NA, Somani B, Bacchetta J. Groothoff JW, et al. Nat Rev Nephrol. 2023 Mar;19(3):194-211. doi: 10.1038/s41581-022-00661-1. Epub 2023 Jan 5. Nat Rev Nephrol. 2023. PMID: 36604599 Review.
Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis and eventually kidney failure; the subsequent storage of oxalate can cause life-threatening systemic …
Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to rec …
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.
Garrelfs SF, Frishberg Y, Hulton SA, Koren MJ, O'Riordan WD, Cochat P, Deschênes G, Shasha-Lavsky H, Saland JM, Van't Hoff WG, Fuster DG, Magen D, Moochhala SH, Schalk G, Simkova E, Groothoff JW, Sas DJ, Meliambro KA, Lu J, Sweetser MT, Garg PP, Vaishnaw AK, Gansner JM, McGregor TL, Lieske JC; ILLUMINATE-A Collaborators. Garrelfs SF, et al. N Engl J Med. 2021 Apr 1;384(13):1216-1226. doi: 10.1056/NEJMoa2021712. N Engl J Med. 2021. PMID: 33789010 Clinical Trial.
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate that leads to kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis. ...
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate that lead …
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium. Hopp K, et al. J Am Soc Nephrol. 2015 Oct;26(10):2559-70. doi: 10.1681/ASN.2014070698. Epub 2015 Feb 2. J Am Soc Nephrol. 2015. PMID: 25644115 Free PMC article.
Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate accumulation in the kidneys and other organs. ...
Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate accumulation in the kidneys and othe …
Primary hyperoxaluria.
Lorenzo V, Torres A, Salido E. Lorenzo V, et al. Nefrologia. 2014 May 21;34(3):398-412. doi: 10.3265/Nefrologia.pre2014.Jan.12335. Epub 2014 Apr 30. Nefrologia. 2014. PMID: 24798559 Free article. Review. English, Spanish.
Primary hyperoxaluria (PH) occurs due to an autosomal recessive hereditary disorder of the metabolism of glyoxylate, which causes excessive oxalate production. ...
Primary hyperoxaluria (PH) occurs due to an autosomal recessive hereditary disorder of the metabolism of glyoxylate, which cau …
Nephrolithiasis.
Scheinman SJ. Scheinman SJ. Semin Nephrol. 1999 Jul;19(4):381-8. Semin Nephrol. 1999. PMID: 10435676 Review.
Genetic factors are important determinants for kidney stone formation. Cystinuria, primary hyperoxaluria, and X-linked nephrolithiasis (Dent's disease) are monogenic kidney stone diseases for which responsible genes have been identified. ...
Genetic factors are important determinants for kidney stone formation. Cystinuria, primary hyperoxaluria, and X-linked nephrol …
Lumasiran: First Approval.
Scott LJ, Keam SJ. Scott LJ, et al. Drugs. 2021 Feb;81(2):277-282. doi: 10.1007/s40265-020-01463-0. Drugs. 2021. PMID: 33405070 Review.
Lumasiran (Oxlumo) is a subcutaneously administered small interfering RNA (siRNA) targeting the mRNA for hydroxyacid oxidase 1 gene (HAO1; encodes glycolate oxidase) and was developed by Alnylam Pharmaceuticals for the treatment of primary hyperoxaluria type 1 (PH1) …
Lumasiran (Oxlumo) is a subcutaneously administered small interfering RNA (siRNA) targeting the mRNA for hydroxyacid oxidase 1 gene (HAO1; e …
D-glyceric aciduria.
Dimer NW, Schuck PF, Streck EL, Ferreira GC. Dimer NW, et al. An Acad Bras Cienc. 2015 Aug;87(2 Suppl):1409-14. doi: 10.1590/0001-3765201520150021. Epub 2015 Aug 4. An Acad Bras Cienc. 2015. PMID: 26247153 Free article. Review.
Imaging features of primary hyperoxaluria.
Rootman MS, Mozer-Glassberg Y, Gurevich M, Schwartz M, Konen O. Rootman MS, et al. Clin Imaging. 2018 Nov-Dec;52:370-376. doi: 10.1016/j.clinimag.2018.09.009. Epub 2018 Sep 15. Clin Imaging. 2018. PMID: 30253334 Review.
Primary hyperoxaluria (PH) is a group of autosomal recessive diseases that affect the metabolism of glyoxalate and oxalate. ...
Primary hyperoxaluria (PH) is a group of autosomal recessive diseases that affect the metabolism of glyoxalate and oxalate. .. …
310 results