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

Year Number of Results
1970 1
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1981 3
1982 3
1983 6
1984 1
1985 1
1986 3
1987 9
1988 2
1989 9
1990 11
1991 9
1992 4
1993 12
1994 13
1995 13
1996 8
1997 7
1998 13
1999 14
2000 11
2001 17
2002 15
2003 23
2004 15
2005 28
2006 18
2007 11
2008 26
2009 32
2010 30
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2013 37
2014 32
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2016 38
2017 37
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2020 57
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2023 42
2024 16

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Page 1
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 disease …
Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent …
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 leads to ki …
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. ...Diagnosis is based on family history, the presence of urolithiasis and/or nephrocalcinosis, hyperoxaluria …
Primary hyperoxaluria (PH) occurs due to an autosomal recessive hereditary disorder of the metabolism of glyoxylate, which causes exc …
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 other organ …
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.
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). By si …
Lumasiran (Oxlumo) is a subcutaneously administered small interfering RNA (siRNA) targeting the mRNA for hydroxyacid oxidase 1 gene (HAO1; e …
Urolithiasis in enterocystoplasties.
Woodhouse CR, Robertson WG. Woodhouse CR, et al. World J Urol. 2004 Sep;22(3):215-21. doi: 10.1007/s00345-004-0437-5. Epub 2004 Sep 3. World J Urol. 2004. PMID: 15349748 Review.
All patients have raised pH (mean 6.93) and hypocitraturia. Raised serum and urinary calcium, hyperoxaluria and hyperuricosuria are found in up to 33% of patients....
All patients have raised pH (mean 6.93) and hypocitraturia. Raised serum and urinary calcium, hyperoxaluria and hyperuricosuria are f …
Folding Defects Leading to Primary Hyperoxaluria.
Oppici E, Dindo M, Conter C, Borri Voltattorni C, Cellini B. Oppici E, et al. Handb Exp Pharmacol. 2018;245:313-343. doi: 10.1007/164_2017_59. Handb Exp Pharmacol. 2018. PMID: 29071511 Review.
This review is focused on primary hyperoxalurias, a group of disorders of glyoxylate detoxification associated with massive calcium oxalate deposition mainly in the kidneys. The most common and severe form, primary hyperoxaluria Type I, is due to the deficit of liver perox …
This review is focused on primary hyperoxalurias, a group of disorders of glyoxylate detoxification associated with massive calcium oxalate …
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. ...
800 results