Results 101 to 110 of about 7,701 (216)

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

Primary hyperoxaluria [PDF]

Biochemical Journal, 1971
openaire   +4 more sources

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

Tamm-Horsfall protein in recurrent calcium kidney stone formers with positive family history: abnormalities in urinary excretion, molecular structure and function [PDF]

, 2018
Tamm-Horsfall protein (THP) powerfully inhibits calcium oxalate crystal aggregation, but structurally abnormal THPs from recurrent calcium stone formers may promote crystal aggregation.
Hess, Bernhard, Jaggi, Markus, Nakagawa, Yasushi, Zipperle, Ljerka   +3 more
core  

Genetic Diagnosis of Hyperoxaluria Type 3 Patients Using Haplotype Analysis

Kidney & Blood Pressure Research
Introduction: An autosomal recessive hereditary disorder of the glyoxylate metabolism, primary hyperoxaluria (PH), causes an excess of oxalate to be formed in the body.
Sadegh Tavakoli Ataabadi, Leila Behi, Marzieh Mojbafan, Nakysa Hooman   +3 more
doaj   +1 more source

My Kidneys Just Stopped Working: Adult Onset End-Stage Renal Disease From Rare Metabolic Disorder [PDF]

, 2011
Oertel, Mark J, Yarlagadda, Sri
core   +2 more sources

Primary Hyperoxaluria

Annals of the Academy of Medicine, Singapore, 2010
Niranjan, Khandelwal, Kushaljit Singh, Sodhi, Vivek, Virmani, Navneet, Sharma   +3 more
openaire   +2 more sources

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

Medicine, 1964
T D, HOCKADAY, J E, CLAYTON, E W, FREDERICK, L H, SMITH   +3 more
openaire   +2 more sources

Primary hyperoxaluria and systemic oxalosis

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