Results 31 to 40 of about 5,140 (180)

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

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +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

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 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

Histopathologic Characterization of Cutaneous Oxalosis Mimicking Calciphylaxis: Diagnostic Pitfalls and Polarized Light Evaluation

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous oxalosis is an uncommon manifestation of primary hyperoxalosis, which can often resemble other cutaneous manifestations of end stage renal disease (ESRD), particularly calciphylaxis. We report the case of a 46 year old female with primary hyperoxaluria type one (PH1) believed to be well‐controlled on lumasiran, a small interfering ...
Shrina Patel, Brad Graham, Kaci Reaves, Mya Phelps   +3 more
wiley   +1 more source

Smart Design: Integrating Artificial Intelligence and Gene Editing for Advanced mRNA Therapeutics

MedComm – Biomaterials and Applications, Volume 5, Issue 3, September 2026.
The challenges of mRNA therapy and the application of artificial intelligence and gene editing in the field of mRNA drugs. ABSTRACT Artificial intelligence (AI) and gene editing are increasingly being applied to the design and evaluation of mRNA therapeutics.
Haixing Shi, Shengbin Liu, Danni Dai, Shanhui Jiang, Tingchen Tian, Zhenyi Niu, Zhongzheng Xiang, Chaoyu Zou, Fang Liu, Xue Tang, Xin Jiang, Xiangrong Song   +11 more
wiley   +1 more source

Medicinal and Crop Protection Chemistry: Breaking Barriers, Building Synergies

ChemMedChem, Volume 21, Issue 16, 27 August 2026.
A unified view of medicinal and crop protection chemistry reveals shared scientific progress, common challenges, and new opportunities for cross‐disciplinary collaboration. Bridging expertise across both fields could accelerate innovation and actively encourage more sustainable solutions.
Giulia Cazzaniga, Giusy L. Fratello, Alexander T. Apostle, Roberto Orru, David M. Barber, Silvia Gazzola   +5 more
wiley   +1 more source

Inducing Oxalobacter formigenes Colonization Reduces Urinary Oxalate in Healthy Adults

Kidney International Reports
Introduction: Oxalate-degrading intestinal bacteria, including the oxalate-degrading specialist, Oxalobacter formigenes (O formigenes), have the potential to reduce urinary oxalate excretion in humans, and thus limit the risk of calcium oxalate kidney ...
Sonia Fargue, Mangesh Suryavanshi, Kyle D. Wood, Joseph J. Crivelli, Robert A. Oster, Dean G. Assimos, Aaron Miller, John Knight   +7 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