Results 61 to 70 of about 7,704 (220)

Hyperoxaluria by the AGXT gene: a case report

Journal of Medical Case Reports
Background This report details a case of AGXT gene mutation in a male patient, 9 years 6 months old, Portuguese ethnicity, with history of nephrocalcinosis and recurrent nephrolithiasis in childhood, which progressed to chronic kidney disease.
Alessandra Vitorino Naghettini, Alice Leite Mesquita, Andrielle Nunes Santos, Juliana Vieira Peixoto Moreira, Maysa Campos Mota de Oliveira, Patrícia Marques Fortes   +5 more
doaj   +1 more source

Risk factors evaluation for urolithiasis among children [PDF]

, 1978
BackgroundThe prevalence of pediatric urolithiasis varies from 0.01–0.03%. Urolithiasis may be caused by anatomical, metabolic and environmental factors.
Velásquez-Forero, Francisco, Esparza, Mariela, Salas, Alejandro, Medeiros, Mara, Toussaint, Georgina, Llach, Francisco   +5 more
core   +2 more sources

Are saliva and bile sources of oxalate secretion into the human gastrointestinal tract?

Physiological Reports, Volume 14, Issue 8, April 2026.
Abstract Elevated urine oxalate (hyperoxaluria) is a risk factor for kidney stones. Normally eliminated by the kidneys, oxalate originates from endogenous metabolism and dietary absorption but secretion into the intestine remains an open question. We considered saliva and bile as two potential sources.
Emma Earhart, Thomas Tielleman, John Knight, Jonathan M. Whittamore   +3 more
wiley   +1 more source

Role of misfolding in rare enzymatic deficits and use of pharmacological chaperones as therapeutic approach

Frontiers in Bioscience-Landmark, 2021
Cells have evolved sophisticated molecular control systems to maximize the efficiency of the folding process. However, any subtle alteration of the environment or the protein can lead to misfolding or affect the conformational plasticity of the native ...
Gioena Pampalone, Silvia Grottelli, Leonardo Gatticchi, Emilia Maria Lombardi, Ilaria Bellezza, Barbara Cellini   +5 more
doaj   +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  

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

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

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

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

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