Results 41 to 50 of about 4,323 (173)

Kidney stones in primary hyperoxaluria: new lessons learnt. [PDF]

PLoS ONE, 2013
To investigate potential differences in stone composition with regard to the type of Primary Hyperoxaluria (PH), and in relation to the patient's medical therapy (treatment naïve patients versus those on preventive medication) we examined twelve kidney ...
Dorrit E Jacob, Bernd Grohe, Michaela Geßner, Bodo B Beck, Bernd Hoppe   +4 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

THE DIAGNOSIS AND FOLLOW-UP IN TWO BROTHERS WITH PRIMARY HYPEROXALURIA

Turkish Journal of Nephrology, 2019
A 16 year old boy with end stage renal disease secondary to bilateral urolithiasis underwent bilateral nephrectomy because of recurrent urinary tract infections.Histopathologic examination of the renal tissue was compatible with oxalosis.After that, the ...
Alper SOYLU, Salih KAVUKÇU, Mehmet TÜRKMEN, Şebnem YILMAZ, Kutsal YÖRÜKOĞLU   +4 more
doaj  

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

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

Probiotics and Their Functional Role in Mitigating Antinutrient Effects In Vivo—A Systematic Review and Meta‐Analysis

Comprehensive Reviews in Food Science and Food Safety, Volume 25, Issue 4, July 2026.
ABSTRACT Antinutrients like phytic acid and oxalates reduce mineral bioavailability by forming insoluble complexes with iron, zinc, and calcium. Probiotic supplementation may counteract these effects through enzymatic activity (e.g., phytase, oxalate decarboxylase) and microbiota modulation. This PRISMA‐based meta‐analysis evaluated 27 in vivo studies (
Ligia Olar‐Pop, Mihaiela Cornea‐Cipcigan, Călina Cristina Ciont, Ramona Suharoschi, Raluca Maria Pop, Oana Lelia Pop   +5 more
wiley   +1 more source

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

Case Report: Sustained Efficacy of Lumasiran at 18 Months in Primary Hyperoxaluria Type 1

Frontiers in Pediatrics, 2022
Background: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate, ultimately responsible for kidney stones, kidney failure and systemic oxalosis.
Benedetta Chiodini, Nathalie Tram, Brigitte Adams, Elise Hennaut, Ksenija Lolin, Khalid Ismaili   +5 more
doaj   +1 more source

Clinicopathological Associations of Plasma Cell‐Rich Rejection in Pediatric Liver Transplant Recipients

Pediatric Transplantation, Volume 30, Issue 7, July 2026.
Plasma cell‐rich rejection (PCRR) occurred in 15.3% of pediatric liver transplant recipients. PCRR was associated with recurrent rejection, severe rejection, central perivenulitis, ANA positivity, and chronic rejection. PCRR was not independently associated with mortality.
R. Gemell, C. Hajinicolaou, M. Hale, P. Walabh   +3 more
wiley   +1 more source

More Than a Question of Correlation: Characterization of the Evidentiary Basis for Biomarker Surrogates Used in European Marketing Authorizations

Clinical Pharmacology &Therapeutics, Volume 119, Issue 6, Page 1522-1536, June 2026.
Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra, Viktoriia Starokozhko, Elisabeth Bakker, Anna Maria Gerdina Pasmooij, Peter Gerardus Maria Mol   +4 more
wiley   +1 more source