Results 61 to 70 of about 7,701 (216)

Bone marrow oxalosis: An unusual cause of cytopenia in end-stage renal disease; report of two cases

Indian Journal of Pathology and Microbiology, 2018
Systemic oxalosis can be either primary or secondary hyperoxaluria. Oxalosis is a phenomenon in which calcium oxalate crystals deposit in various visceral organs leading to bone marrow (BM) failure and recurrent renal stones.
Seema Sharma, Ram Nawal Rao, Krushna Chandra Pani, Paramita Paul   +3 more
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

سه بار شکستگی هيپ در يک کودک مبتلا به هيپراگزالوريا اوليه [PDF]

, 2011
زمينه و هدف : هيپراگزالوريا اوليه از علل ايجاد سنگهای متعدد کليوی و نارسائی کليه در سنين پائين می باشد. تغييرات استخوانی بوجود آمده در اين بيماران شامل دو دسته کلی اگزالوسيس استخوان و استئوديستروفی رنال می باشد.
متقی, آرش, ياوری‌کيا, علیرضا, کيهان شکوه, حسن   +2 more
core  

Calcium oxalate crystal adherence to hyaluronan-, osteopontin-, and CD44-expressing injured/regenerating tubular epithelial cells in rat kidneys [PDF]

, 2003
Retention of crystals in the kidney is an essential early step in renal stone formation. Studies with renal tubular cells in culture indicate that hyaluronan (HA) and osteopontin (OPN) and their mutual cell surface receptor CD44 play an
Asselman, M. (Marino), Broe, M.E. de, Verhulst, A. (Anja), Verkoelen, C.F.   +3 more
core   +2 more sources

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

ヒト肝におけるセリン：グリオキシル酸変換酵素活性によるアラニン：グリオキシル酸変換酵素の測定 [PDF]

, 2010
浜松医科大学学位論文　医博論第479号 ...
7462, 永田, 仁夫
core   +2 more sources

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

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

Az étrend szerepe a húgyúti kövek kialakulásában és megelőzésében [PDF]

, 2017
In Hungary and in the developed countries urinary stones occur more often due to nutritional habits, obesity and sedentary lifestyle beside the endocrine and metabolic causes.
Bánfi, Gergely, Horváth, András, Horváth, Csaba, Nyirády, Péter, Szendrői, Attila, Tordé, Ákos, Vargha, Judit   +6 more
core   +2 more sources

Does instrumentation and irrigation configuration affect intrarenal pressure during PCNL?

BJUI Compass, Volume 7, Issue 2, February 2026.
Abstract Objectives To measure the effects of varying configurations of nephroscope sheath, irrigation, instruments, and suction on intrarenal pressure (IRP) during percutaneous nephrolithotomy (PCNL). Materials and Methods Kidney and ureter 3D printed models from a deidentified patient's CT scan were placed in a plaster and foam mould, simulating the ...
Evan Seibly, Ali Albaghli, Kyu Park, Elizabeth A. Baldwin, Ala'a Farkouh, Katya Hanessian, Nicole Mack, Cliff De Guzman, Toby Clark, Matthew Buell, Rose Leu, Kanha Shete, Sikai Song, Akin S. Amasyali, Zham Okhunov, D. Duane Baldwin   +15 more
wiley   +1 more source