ALLMedicine™ Hyperoxaluria Center
Research & Reviews 961 results
https://doi.org/10.1093/ndt/gfab027
Nephrology, Dialysis, Transplantation : Official Publicat... Singh P, Viehman JK et. al.
Feb 5th, 2021 - Primary hyperoxaluria type 3 (PH3) is caused by mutations in the HOGA1 gene. PH3 patients often present with recurrent urinary stone disease (USD) in first decade of life, but prior reports suggested PH3 may have a milder phenotype in adults. The ...
https://doi.org/10.1007/s00467-020-04894-9 10.1056/NEJMra1301564 10.1038/nrneph.2012.113 10.4061/2011/864580 10.1681/ASN.2017040390 10.1007/s11926-013-0340-4 10.1152/ajprenal.00382.2013 10.1097/MNH.0000000000000229 10.1517/13543784.2013.741587 10.1681/ASN.2014070698 10.1159/000086360 10.3390/ijms21103608 10.1016/j.clinbiochem.2017.07.017 10.1007/s00467-020-04531-5 10.1093/ndt/gfr107 10.1007/s00240-017-0998-6 10.1007/s00467-016-3553-8 10.1128/AEM.40.4.833-839.1980 10.1007/BF00446731 10.1089/end.2010.0462 10.1007/s00240-013-0601-8 10.1681/ASN.2008030287 10.1046/j.1523-1755.1998.00891.x 10.1373/clinchem.2005.054353 10.1016/0009-8981(82)90080-8 10.4135/9781412983808 10.1007/BF01890836 10.1590/1678-4685-JBN-3743 10.1080/21678707.2019.1571905 10.1038/ki.2009.435 10.1038/ki.2014.222
Pediatric Nephrology (Berlin, Germany); Milliner DS, Cochat P et. al.
Jan 30th, 2021 - In patients with primary hyperoxaluria (PH), endogenous oxalate overproduction increases urinary oxalate excretion, leading to compromised kidney function and often kidney failure. Highly elevated plasma oxalate (Pox) is associated with systemic o...
https://doi.org/10.1097/01.NAJ.0000734120.60377.79
The American Journal of Nursing; Aschenbrenner DS
Jan 26th, 2021 - Several new drugs have been approved to treat rare genetic disorders: setmelanotide for certain conditions causing obesity; lumasiran for primary hyperoxaluria type 1, a kidney disorder; and lonafarnib for two diseases that cause premature aging.
https://doi.org/10.1152/ajprenal.00514.2020
American Journal of Physiology. Renal Physiology; Li Y, Zheng R et. al.
Jan 25th, 2021 - Primary hyperoxaluria type 1 (PH1) is a severe inherited disorder caused by a genetic defect in alanine-glyoxylate aminotransferase (AGXT) that results in recurrent urolithiasis and renal failure. Animal models that precisely reflect the human PH1...
https://doi.org/10.1002/ajmg.a.62076
American Journal of Medical Genetics. Part A REFERENCES; Kerkvliet SP, Rheault MN et. al.
Jan 14th, 2021 - We report a patient with homocystinuria and hyperoxaluria who was cured of homocystinuria-related disease following liver transplant. The patient was diagnosed with homocystinuria as a newborn and was treated with dietary modifications and supplem...
Guidelines 2 results
https://doi.org/10.1093/ndt/gfs078
Nephrology, Dialysis, Transplantation : Official Publicat... Cochat P, Hulton SA et. al.
May 1st, 2012 - Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary...
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Drugs 1 results see all →
Clinicaltrials.gov 987 results
https://doi.org/10.1093/ndt/gfab027
Nephrology, Dialysis, Transplantation : Official Publicat... Singh P, Viehman JK et. al.
Feb 5th, 2021 - Primary hyperoxaluria type 3 (PH3) is caused by mutations in the HOGA1 gene. PH3 patients often present with recurrent urinary stone disease (USD) in first decade of life, but prior reports suggested PH3 may have a milder phenotype in adults. The ...
https://doi.org/10.1007/s00467-020-04894-9 10.1056/NEJMra1301564 10.1038/nrneph.2012.113 10.4061/2011/864580 10.1681/ASN.2017040390 10.1007/s11926-013-0340-4 10.1152/ajprenal.00382.2013 10.1097/MNH.0000000000000229 10.1517/13543784.2013.741587 10.1681/ASN.2014070698 10.1159/000086360 10.3390/ijms21103608 10.1016/j.clinbiochem.2017.07.017 10.1007/s00467-020-04531-5 10.1093/ndt/gfr107 10.1007/s00240-017-0998-6 10.1007/s00467-016-3553-8 10.1128/AEM.40.4.833-839.1980 10.1007/BF00446731 10.1089/end.2010.0462 10.1007/s00240-013-0601-8 10.1681/ASN.2008030287 10.1046/j.1523-1755.1998.00891.x 10.1373/clinchem.2005.054353 10.1016/0009-8981(82)90080-8 10.4135/9781412983808 10.1007/BF01890836 10.1590/1678-4685-JBN-3743 10.1080/21678707.2019.1571905 10.1038/ki.2009.435 10.1038/ki.2014.222
Pediatric Nephrology (Berlin, Germany); Milliner DS, Cochat P et. al.
Jan 30th, 2021 - In patients with primary hyperoxaluria (PH), endogenous oxalate overproduction increases urinary oxalate excretion, leading to compromised kidney function and often kidney failure. Highly elevated plasma oxalate (Pox) is associated with systemic o...
https://doi.org/10.1097/01.NAJ.0000734120.60377.79
The American Journal of Nursing; Aschenbrenner DS
Jan 26th, 2021 - Several new drugs have been approved to treat rare genetic disorders: setmelanotide for certain conditions causing obesity; lumasiran for primary hyperoxaluria type 1, a kidney disorder; and lonafarnib for two diseases that cause premature aging.
https://doi.org/10.1152/ajprenal.00514.2020
American Journal of Physiology. Renal Physiology; Li Y, Zheng R et. al.
Jan 25th, 2021 - Primary hyperoxaluria type 1 (PH1) is a severe inherited disorder caused by a genetic defect in alanine-glyoxylate aminotransferase (AGXT) that results in recurrent urolithiasis and renal failure. Animal models that precisely reflect the human PH1...
https://doi.org/10.1002/ajmg.a.62076
American Journal of Medical Genetics. Part A REFERENCES; Kerkvliet SP, Rheault MN et. al.
Jan 14th, 2021 - We report a patient with homocystinuria and hyperoxaluria who was cured of homocystinuria-related disease following liver transplant. The patient was diagnosed with homocystinuria as a newborn and was treated with dietary modifications and supplem...
News 11 results
https://www.medscape.com/viewarticle/941520
Nov 23rd, 2020 - The US Food and Drug Administration (FDA) has approved lumasiran (Oxlumo, Alnylam Pharmaceuticals) subcutaneous injection to treat children and adults with primary hyperoxaluria type 1 (PH1), an ultra-rare genetic disorder that causes recurrent ki...
https://www.medscape.com/viewarticle/912061
May 1st, 2019 - Does higher urinary oxalate excretion predispose patients to kidney failure? Elevated levels of oxalate, a metabolite eliminated through the kidney, can be toxic. Oxalate nephropathy is characterized by high concentrations of oxalate in kidney tub...
http://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-treat-rare-metabolic-disorder
For Immediate Release: November 23, 2020 Today, the U.S. Food and Drug Administration approved Oxlumo (lumasiran) as the first treatment for primary hyperoxaluria type 1 (PH1), a rare genetic disorder. This approval is a cumulation of the work of ...
https://www.mdedge.com/clinicianreviews/article/87830/nephrology/not-so-common-stone/page/0/1
Sep 11th, 2014 - 9. Harambat J, Farque S, Acquaviva C.