Results 101 to 110 of about 5,205 (214)

SSIEM presentation: Fragment screening for drug discovery in primary hyperoxaluria type 1

, 2018
PowerPoint slides for oral presentation at the SSIEM Annual conference in Athens, September 2018. Talk title was 'Fragment screening for drug discovery in inborn errors of metabolism: Primary hyperoxaluria type 1 as an exemplar target'.
Mackinnon, Sabrina (5726528), Mackinnon, Sabrina, Yue, Wyatt, W (5726531), Yue, Wyatt, W   +3 more
core   +1 more source

[13C2]oxalate absorption in children with idiopathic calcium oxalate urolithiasis or primary hyperoxaluria

, 2008
Intestinal oxalate absorption is an important part of oxalate metabolism influencing its urinary excretion and its measurement can be a valuable diagnostic tool in hyperoxaluric disorders. In this study, we use [13C2]oxalate absorption under standardized
Beck, B., Hoppe, B., von Unruh, G.E., Feldkötter, M., Hesse, A., Zajączkowska, M., Sikora, P.   +6 more
core   +1 more source

PRIMARY HYPEROXALURIA

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

Type I primary hyperoxaluria in pediatric patients: Renal sonographic patterns

, 2004
OBJECTIVE. Our aim was to review the sonographic features of type I primary hyperoxaluria in children and to correlate the sonographic patterns with the clinical development of end-stage renal disease (ESRD). MATERIALS AND METHODS.
Diallo, Ousséini, Avni, Efraim, Hall, Michelle, Janssens, Françoise   +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

Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder

Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate metabolism with the early manifestation of urolithiasis and the development of the chronic kidney disease.
Azova M.M., Subbotina T.I., Rudenko V.I., Gadzhieva Z.K., Asanov A.Y., Pushkarev A.M., Khamidullin K.R., Tadevosyan E.G., Litvinova M.M., Alyaev Y.G., Filippova T.V., Svetlichnaya D.V.   +11 more
core  

Genetics of Primary Hyperoxaluria

, 1990
Primary hyperoxaluria (PH) is a rare inborn error of metabolism characterized by increased production of oxalate and glycolate [1]. Urinary excretion of oxalate always exceeds 100 mg (1.1 mmol), and usually 200 mg (2.2 mmol) per day, as compared to less ...
Ernst P. Leumann, Albert Schinzel, Leumann, Ernst P, Schinzel, Albert   +3 more
core   +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

Primary hyperoxaluria

Indian Journal of Pathology and Microbiology, 2021
Sudip Roy, Uttara Chatterjee, Moumita Sengupta, Suchandra Ray   +3 more
openaire   +1 more source