Results 31 to 40 of about 4,810 (156)

The primary hyperoxalurias [PDF]

Kidney International, 2009
The primary hyperoxalurias (PHs) are rare disorders of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Due to the resulting severe hyperoxaluria, recurrent urolithiasis or progressive nephrocalcinosis are principal manifestations.
Hoppe, Bernd, Beck, Bodo B., Milliner, Dawn S.   +2 more
openaire   +2 more sources

Late onset primary hyperoxaluria after kidney transplantation in a 36-year-old woman [PDF]

Journal of Nephropathology
Primary hyperoxaluria is a rare congenital autosomal recessive disorder disrupting the glyoxylate metabolism pathway in the liver. Type1 primary hyperoxaluria is caused by a deficiency in a specific liver enzyme namely, alanine glyoxylate ...
Amirhesam Alirezaei, Hamed Ebrahimibagha, Mahmoud Parvin, Majid Ali Asgari, Leyla Bagheri   +4 more
doaj   +1 more source

Gut microbiota modulation via fecal microbiota transplantation mitigates hyperoxaluria and calcium oxalate crystal depositions induced by high oxalate diet

Gut Microbes
Hyperoxaluria, including primary and secondary hyperoxaluria, is a disorder characterized by increased urinary oxalate excretion and could lead to recurrent calcium oxalate kidney stones, nephrocalcinosis and eventually end stage renal disease.
Lingyue An, Shujue Li, Zhenglin Chang, Min Lei, Zhican He, Peng Xu, Shike Zhang, Zheng Jiang, Muhammad Sarfaraz Iqbal, Xinyuan Sun, Hongxing Liu, Xiaolu Duan, Wenqi Wu   +12 more
doaj   +1 more source

Etiologies, Clinical Features, and Outcome of Oxalate Nephropathy

Kidney International Reports, 2020
Background: Oxalate nephropathy is a potentially underestimated cause of kidney failure characterized by massive deposition of calcium oxalate crystals in the renal parenchyma.
Benoit Buysschaert, Selda Aydin, Johann Morelle, Valentine Gillion, Michel Jadoul, Nathalie Demoulin, MD   +5 more
doaj   +1 more source

Advancing the Landscape of RNAi Nanotherapeutics for Ischemic Heart Disease

Advanced Materials, Volume 38, Issue 17, 20 March 2026.
RNA interference (RNAi) nanomedicine revolutionizes treatment regimens for ischemic heart diseases by enabling tailored, sequence‐anchored gene regulation. This review highlights the recent advances in nanotechnology‐driven RNAi therapeutics for myocardial ischemia and discusses the key design principles that govern efficient delivery, providing ...
Han Gao, Da Pan, Hélder A. Santos
wiley   +1 more source

Identifying recurrent stone formers with machine learning: A single‐centre observational study

BJUI Compass, Volume 7, Issue 3, March 2026.
Abstract Objectives Kidney stones affect 12% of the population over their lifetime. Recurrent kidney stones lead to repeated interventions and excessive healthcare costs. Despite progress in imaging and metabolic evaluations, models to accurately identify patients at high risk are missing.
Pedro Amado, Daniel G. Fuster, Matteo Bargagli, Dominik Obrist, Fiona Burkhard, Beat Roth, Francesco Clavica, Shaokai Zheng   +7 more
wiley   +1 more source

Opportunities in Primary and Enteric Hyperoxaluria at the Cross-Roads Between the Clinic and Laboratory

Kidney International Reports
Hyperoxaluria is a condition in which there is a pathologic abundance of oxalate in the urine through either hepatic overproduction (primary hyperoxaluria [PH]) or excessive enteric absorption of dietary oxalate (enteric hyperoxaluria [EH]). Severity can
Barbara Cellini, Michelle A. Baum, Yaacov Frishberg, Jaap W. Groothoff, Peter C. Harris, Sally A. Hulton, Felix Knauf, John Knight, John C. Lieske, W. Todd Lowther, Shabbir Moochhala, Lama Nazzal, Gregory E. Tasian, Jonathan M. Whittamore, David J. Sas   +14 more
doaj   +1 more source

Unusual cause of renal failure in infancy: Primary hyperoxaluria

Journal of Pediatric Critical Care, 2015
Background: Primary hyperoxaluria is a rare disease characterized by the excessive production and accumulation of oxalate in the body. Methods: We described the case of an infant with primary hyperoxaluria type who had end-stage renal failure in the ...
Kanchan Channawar, V S V Prasad
doaj   +1 more source

Medicine Development and Access for Rare Diseases: Can We Do Better?

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines.
Carla E. M. Hollak, Noa Rosenberg, Colinda Post, Nina Stolwijk, Evert Manders, Daphne Schoenmakers, Bart Penninx, Niels Reijnhout, Kathelijn Verdeyen, Roel Jonker, Annet M. Bosch, Mirjam Langeveld, Vincent van der Wel, Saco de Visser, Sibren van den Berg   +14 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source