Results 61 to 70 of about 260 (87)

Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review

Brazilian Journal of Nephrology
Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly
John Fredy Nieto Rios, Monica Zuluaga, Lina Maria Serna Higuita, Adriana Florez, Diana Carolina Bello-Marquez, Arbey Aristizábal, Catalina Ocampo Kohn, Gustavo Adolfo Zuluaga   +7 more
doaj   +1 more source

Late-onset retinal oxalosis in primary hyperoxaluria type 2

American Journal of Ophthalmology Case Reports
Purpose: To report a previously undescribed case of late-onset vision loss due to retinal oxalosis in a patient with primary hyperoxaluria type 2 (PH2).
Rupak Bhuyan, Tyler Maggio, Christie Thomas, Meenakshi Sambharia, Karen Gehrs, Timothy Boyce   +5 more
doaj   +1 more source

Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1

Kidney International Reports
Introduction: Primary hyperoxaluria type 1 (PH1) is known for its variable clinical course, even within families. However, the extent of this heterogeneity has not been well-studied.
Lisa J. Deesker, Hazal A. Karacoban, Elisabeth L. Metry, Sander F. Garrelfs, Justine Bacchetta, Olivia Boyer, Laure Collard, Arnaud Devresse, Wesley Hayes, Sally-Anne Hulton, Cristina Martin-Higueras, Shabbir H. Moochhala, Thomas J. Neuhaus, Jun Oh, Larisa Prikhodina, Przemyslaw Sikora, Michiel J.S. Oosterveld, Jaap W. Groothoff, Giorgia Mandrile, Bodo B. Beck   +19 more
doaj   +1 more source

Navigating the Evolving Landscape of Primary Hyperoxaluria: Traditional Management Defied by the Rise of Novel Molecular Drugs

Biomolecules
Primary hyperoxalurias (PHs) are inherited metabolic disorders marked by enzymatic cascade disruption, leading to excessive oxalate production that is subsequently excreted in the urine.
Yueqi Huang, Wei Zhu, Jia Zhou, Qiulin Huang, Guohua Zeng   +4 more
doaj   +1 more source

CHRONIC RENAL FAILURE DUE TO HYPER OXALURIA IN PEDIATRIC PATIENTS

Turkish Journal of Nephrology, 2019
Primary hyperoxaluria is a rarely encountered disease characterised by recurrent urolithiasis, nephrocalcinosis, and oxalate deposition in almost all tissues, generally inherited in autosomal recessive fashion and the important complications of which can
Ali DELİBAŞ, Özlem ERDOĞAN, Mehmet BÜLBÜL, Kenan BEK, Gülay DEMİRCİN, Ayşe ÖNER   +5 more
doaj  

Primary hyperoxaluria and systemic oxalosis

Indian Journal of Urology, 2007
K Sriram, Nitin S Kekre, Ganesh Gopalakrishnan   +2 more
doaj   +1 more source

A case of oxalate nephropathy presenting with acute kidney injury [PDF]

Journal of Krishna Institute of Medical Sciences University
Oxalate Nephropathy (ON) represents a serious condition characterized by a decline in renal function associated with calcium oxalate crystal deposition within renal tubules. It can arise from Primary Hyperoxaluria (PH) due to genetic defects or secondary
Pradnya Mukund Diggikar, Mayank Mundada, Raju Hansini Reddy, Tushar Pancholi   +3 more
doaj  

Type 1 primary hyperoxaluria in a male infant

Kidney Research and Clinical Practice, 2017
Benjamin Waddell, Daniel McKenney
doaj   +1 more source

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Lumasiran in the Management of Patients with Primary Hyperoxaluria Type 1: From Bench to Bedside

International Journal of Nephrology and Renovascular Disease, 2022
Pietro Manuel Ferraro
exaly  

Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium

Kidney International Reports, 2023
Julien Hogan, Graham W Lipkin, Thomas J Neuhaus   +2 more
exaly