Results 51 to 60 of about 6,717 (218)

Primer hyperoxaluria. Tények és perspektívák = Primary hyperoxaluria. Facts and perspectives

, 2022
A primer hyperoxaluria ritka anyagcsere-betegség. A glioxilát anyagcserezavara miatt nagy mennyiségű oxalát keletkezik, amely – mivel rosszul oldódik – a szövetekben oxalátkicsapódáshoz, oxalosishoz vezet.
Szabó J., Attila, Kelen, Kata, Dezsőfi-Gottl, Antal, Maka, Erika, Jávorszky, Eszter, Dobi, Deján, Sallay, Péter, Reusz, György, Nyikuly, Kinga, Szatmári, Ildikó, Lódi, Csaba, Várkonyi, Ildikó, Tory, Kálmán, Mikes, Bálint, Máttyus, István, Kaucsár, Tamás   +15 more
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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

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

Hyperoxaluria in children [PDF]

, 2014
Hiperoksalurija je jedan od glavnih rizičnih čimbenika za rekurentnu urolitijazu i progresivnu nefrokalcinozu. Odgovorna je za 2-20% metaboličkih rizičnih faktora identificiranih u djece i adolescenata s urolitijazom.
Barić, Anastasija
core  

Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II

, 2002
Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II.BackgroundHyperoxaluria may be idiopathic, secondary, or due to primary hyperoxaluria (PH).
Milliner, Dawn S., Monico, Carla G., Ford, G. Charles, Rumsby, Gill, Carla G. Monico, Persson, Mai, Mai Persson, Gill Rumsby, Dawn S. Milliner, G. Charles Ford   +9 more
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Unusual cause of renal failure in infancy: Primary hyperoxaluria

Journal of Pediatric Critical Care, 2015
Background: Primary hyperoxaluria is a rare disease characterized by the excessive production and accumulation of oxalate in the body. Methods: We described the case of an infant with primary hyperoxaluria type who had end-stage renal failure in the ...
Kanchan Channawar, V S V Prasad
doaj   +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

Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: A potential therapy for primary hyperoxaluria

, 2005
Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: A potential therapy for primary hyperoxaluria.BackgroundPrimary hyperoxaluria is a rare genetic disorder of glyoxylate metabolism that results in overproduction of oxalate. The disease is
Kim, Daniel, Hudson, Billy G., Belmont, John M., Sergei V. Chetyrkin, Daniel Kim, Chetyrkin, Sergei V., Paul A. Voziyan, Scheinman, J.O.N. I., Voziyan, Paul A., J.O.N. I. Scheinman, John M. Belmont, Billy G. Hudson   +11 more
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Inducing Oxalobacter formigenes Colonization Reduces Urinary Oxalate in Healthy Adults

Kidney International Reports
Introduction: Oxalate-degrading intestinal bacteria, including the oxalate-degrading specialist, Oxalobacter formigenes (O formigenes), have the potential to reduce urinary oxalate excretion in humans, and thus limit the risk of calcium oxalate kidney ...
Sonia Fargue, Mangesh Suryavanshi, Kyle D. Wood, Joseph J. Crivelli, Robert A. Oster, Dean G. Assimos, Aaron Miller, John Knight   +7 more
doaj   +1 more source

Tipping point and molecular mechanism of the transformation of lung adenocarcinoma in situ to invasive adenocarcinoma: A study based on dynamic network markers in systems biology

Clinical and Translational Discovery, Volume 6, Issue 3, June 2026.
A dynamic network biomarker (DNBs) linking the transformation from lung AIS to IAC. Key differential genes and pathways were identified, establishing MIA as the critical tipping point for transformation. Abstract Background Lung adenocarcinoma in situ (AIS), characterised by ground‐glass nodules as observed in computed tomography imaging, generally ...
Lin Shi, Longfu Zhang, Jiebai Zhou, Dawei Yang, Mingxiang Feng, Yong Zhang   +5 more
wiley   +1 more source