Results 81 to 90 of about 6,717 (218)

Nephroprotective Effect of Pleurotus ostreatus and Agaricus bisporus Extracts and Carvedilol on Ethylene Glycol-Induced Urolithiasis: Roles of NF-κB, p53, Bcl-2, Bax and Bak

Biomolecules, 2020
This study was designed to assess the nephroprotective effects of Pleurotus ostreatus and Agaricus bisporus aqueous extracts and carvedilol on hyperoxaluria-induced urolithiasis and to scrutinize the possible roles of NF-κB, p53, Bcl-2, Bax and Bak ...
Osama M. Ahmed, Hossam Ebaid, El-Shaymaa El-Nahass, Mahmoud Ragab, Ibrahim M. Alhazza   +4 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

GENDER AND AGE DISTRIBUTION, AND URINARY METABOLIC ABNORMALITIES IN PATIENTS WITH RECURRENT URINARY TRACT STONES

Gomal Journal of Medical Sciences, 2015
Background: Urolithiasis is one of the most common urological disorders. Patients with recurrent urinary tract stones may have underlying metabolic abnormality. The objectives of this study were to determine the gender and age distribution, and frequency
Muhammad Naeem, Tariq Ahmad, Muhammad Kamran Khan, Hazrat Ullah   +3 more
doaj  

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

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

Familial hyperoxaluria with nephrocalcinosis

, 2014
(Key words: Familial hyperoxaluria ...
S S Vithanage Sukumar, B J C Perera, P M G Punchihewa   +2 more
core  

Recurrence of primary hyperoxaluria after kidney transplantation

, 2011
Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis ...
Pargoo, E.M., Asgari, M., Mohammadi, R., Houshmand, M., Ghods, A.J., Malakoutian, T., Aryani, O.   +6 more
core  

Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria

Kidney International Reports
Introduction: Newborn screening (NBS) programs for a defined set of eligible diseases have been enormously successful, but genomic NBS allowing for detection of additional treatable disorders has not been broadly implemented.
Bernd Hoppe, Cristina Martin-Higueras, Lodovica Borghese, Sophie Kaspar, Björn Reusch, Bodo B. Beck, Adam Walli, Ella Janzen, Sebastian Hegert, Nils Janzen, Katharina Hohenfellner   +10 more
doaj   +1 more source

Primary hyperoxaluria

, 1996
Primary hyperoxaluria is a rare hereditary disease. Two types have been identified. Type 1 is due to the deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase/serine:pyruvate amino-transferase whereas, in type 2, the ...
De Pauw, Luc, Toussaint, Charles
core  

Long Term Survival on Haemodialysis in Primary Hyperoxaluria

, 1990
Results of treatment of end-stage renal failure (ESRF) in patients with primary hyperoxaluria have been generally poor, largely due to the inability of any treatment regime to match the endogenous overproduction of oxalate.
R. Skinner, C.R.V. Tomson, J.S. Tapson
core   +1 more source