Results 71 to 80 of about 7,435 (215)

Hyperoxaluries massives [Massive hyperoxaluria]

, 2004
Primary hyperoxaluria type I is a rare inborn error of metabolism caused by a deficiency of a liver-specific peroxisomal enzyme. It manifests by increased oxalate production that ultimately results in kidney failure, due to urolithiasis and ...
Nguyen, Q.V., Cachat, F., Barbey, F., Daudon, M., Rotman, S., Burnier, M.   +5 more
core  

Expression of heterologous oxalate decarboxylase in HEK293 cells confers protection against oxalate induced oxidative stress as a therapeutic approach for calcium oxalate stone disease

Journal of Enzyme Inhibition and Medicinal Chemistry, 2017
Oxalates stimulate alterations in renal epithelial cells and thereby induce calcium oxalate (CaOx) stone formation. Bacillus subtilis YvrK gene encodes for oxalate decarboxylase (OxdC) which degrades oxalate to formate and CO2.
Abhishek Albert, Vidhi Tiwari, Eldho Paul, Divya Ganesan, Mahesh Ayyavu, Ritu Kujur, Sasikumar Ponnusamy, Kathiresan Shanmugam, Luciano Saso, Selvam Govindan Sadasivam   +9 more
doaj   +1 more source

Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1

, 2021
Background and objectives In the rare disease primary hyperoxaluria type 1, overproduction of oxalate by the liver causes kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis.
Jaap W. Groothoff, GROOTHOFF, Jaap W., HARAMBAT, Jerome, DESCHENES, Georges, HULTON, Sally-Anne, van’t Hoff, William G., David V. Erbe, LORCH, Ulrike, Akshay K. Vaishnaw, Ulrike Lorch, HASLETT, Patrick, GARG, Pushkal P., Pushkal P. Garg, William G. van’t Hoff, VAISHNAW, Akshay K., Dawn S. Milliner, Tracy L. McGregor, Pierre Cochat, MAGEN, Daniella, TALAMUDUPULA, Sandeep, Patrick Haslett, LIESKE, John C., Yaacov Frishberg, Sally-Anne Hulton, MCGREGOR, Tracy L., Jérôme Harambat, Bahru A. Habtemariam, COCHAT, Pierre, MILLINER, Dawn S., LU, Jiandong, Georges Deschênes, ERBE, David V., HABTEMARIAM, Bahru A., STUDY, Collaborators, Jiandong Lu, Daniella Magen, John C. Lieske, VAN'T HOFF, William G., Sandeep Talamudupula, FRISHBERG, Yaacov   +39 more
core   +1 more source

Choroidal neovascularization in primary hyperoxaluria

, 2002
PURPOSE: To report a case of primary hyperoxaluria in which choroidal neovascularization developed bilaterally. DESIGN: Observational case report.
Moschos, MN, Panagiotidis, DN, Gogas, PS, Friberg, TR, Theodossiadis, PG, Pantelia, EM   +5 more
core   +1 more source

GENDER AND AGE DISTRIBUTION, AND URINARY METABOLIC ABNORMALITIES IN PATIENTS WITH RECURRENT URINARY TRACT STONES

Gomal Journal of Medical Sciences, 2015
Background: Urolithiasis is one of the most common urological disorders. Patients with recurrent urinary tract stones may have underlying metabolic abnormality. The objectives of this study were to determine the gender and age distribution, and frequency
Muhammad Naeem, Tariq Ahmad, Muhammad Kamran Khan, Hazrat Ullah   +3 more
doaj  

Palmar papules as a manifestation of cutaneous oxalosis in primary hyperoxaluria: A case report and review of the literature

Clinical Case Reports
Key Clinical Message Cutaneous oxalosis is a rare manifestation of systemic oxalosis, typically associated with primary or secondary hyperoxaluria. We present a rare case of a 23‐year‐old female diagnosed with primary hyperoxaluria and end‐stage renal ...
Hadi Alabdullah, Jameel Soqia, Thaer Douri   +2 more
doaj   +1 more source

Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria

Kidney International Reports
Introduction: Newborn screening (NBS) programs for a defined set of eligible diseases have been enormously successful, but genomic NBS allowing for detection of additional treatable disorders has not been broadly implemented.
Bernd Hoppe, Cristina Martin-Higueras, Lodovica Borghese, Sophie Kaspar, Björn Reusch, Bodo B. Beck, Adam Walli, Ella Janzen, Sebastian Hegert, Nils Janzen, Katharina Hohenfellner   +10 more
doaj   +1 more source

Clinicopathological Associations of Plasma Cell‐Rich Rejection in Pediatric Liver Transplant Recipients

Pediatric Transplantation, Volume 30, Issue 7, July 2026.
Plasma cell‐rich rejection (PCRR) occurred in 15.3% of pediatric liver transplant recipients. PCRR was associated with recurrent rejection, severe rejection, central perivenulitis, ANA positivity, and chronic rejection. PCRR was not independently associated with mortality.
R. Gemell, C. Hajinicolaou, M. Hale, P. Walabh   +3 more
wiley   +1 more source

Late diagnosis of primary hyperoxaluria after failed kidney transplantation

, 2010
Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive inborn error of the glyoxylate metabolism that is based on absence, deficiency or mislocalization of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase. Hyperoxaluria
Spasovski, G, Beck, B B, Tasic, V, Blau, N, Hoppe, B   +4 more
core   +1 more source

Nephrolithiasis in a Second Renal Allograft Recipient: A Rare Cause of Graft Dysfunction [PDF]

Journal of Clinical and Diagnostic Research
Renal allograft nephrolithiasis is an uncommon but clinically significant complication which may compromise graft function. While structural and infective factors are well recognised, metabolic abnormalities such as hyperoxaluria and hypocitraturia are ...
Aalaya Haridas , Manikantan Shekar, Rama Venkateshprasad, Ameya Chogle, Sanketh Nethula   +4 more
doaj   +1 more source