Results 41 to 50 of about 7,602 (197)

A hidden cause of oxalate nephropathy: a case report

Journal of Medical Case Reports, 2021
Background Oxalate nephropathy is a rare disorder that can result in acute kidney injury (AKI) and progresses to end-stage kidney disease (ESKD). The causes can be either primary or secondary.
Tala Mahmoud, Elias C. Ghandour, Bernard G. Jaar   +2 more
doaj   +1 more source

Scanning electron microscopy—a powerful imaging technique for the clinician

Comptes Rendus. Chimie, 2021
Since its first use several decades ago, scanning electron microscopy has been used in numerous investigations dedicated to biological systems. This contribution focuses on observations on pathological calcifications in order to review several major ...
Bazin, Dominique, Bouderlique, Elise, Daudon, Michel, Frochot, Vincent, Haymann, Jean-Philippe, Letavernier, Emmanuel, Tielens, Frederik, Weil, Raphaël   +7 more
doaj   +1 more source

Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]

, 2016
Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira, Detlef Bockenhauer, Ekengren K, Em W, Gonlusen G, Hou J, Hufnagle KG, Ichiyama A, Lenarduzzi G, LiPuma J, Nishiyama S, Pahari A, Robert Kleta, Stephen B. Walsh, Wrong O, Wrong OM, Wrong OM, Wrong OM   +17 more
core   +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

Recurrence of Crystalline Nephropathy after Kidney Transplantation in APRT Deficiency and Primary Hyperoxaluria

Canadian Journal of Kidney Health and Disease, 2015
Purpose of review: To provide transplant physicians with a summary of the pathogenesis and diagnosis of adenine phosphoribosyl transferase (APRT) deficiency and primary hyperoxaluria and, focussed on kidney transplantation, and to discuss interventions ...
Guillaume Bollée, Pierre Cochat, Michel Daudon   +2 more
doaj   +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

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

Kidney Transplantation in Primary Oxalosis: Data From the EDTA Registry [PDF]

, 2017
This paper reports the results of 98 first kidney transplantations in patients with oxalosis as the primary renal disease as recorded by the EDTA Registry.
Broyer, M., Brunner, F. P., Brynger, H., Dykes, S. R., Ehrich, J. H. H., Fassbinder, W., Geerlings, W., Rizzoni, G., Selwood, N. H., Tufveson, G., Wing, A. J.   +10 more
core  

The intestine and the kidneys : a bad marriage can be hazardous [PDF]

, 2015
The concept that the intestine and chronic kidney disease influence each other, emerged only recently. The problem is multifaceted and bidirectional. On one hand, the composition of the intestinal microbiota impacts uraemic retention solute production ...
Glorieux, Griet, Vanholder, Raymond
core   +1 more source

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, Volume 22, Issue 16, 17 March 2026.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source