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Ruth Belostotsky
Ruth Belostotsky
Pediatric Nephrology Lab Shaare Zedek Medical Center
在 szmc.org.il 的电子邮件经过验证
标题
引用次数
引用次数
年份
Mutations in DHDPSL are responsible for primary hyperoxaluria type III
R Belostotsky, E Seboun, GH Idelson, DS Milliner, R Becker-Cohen, ...
The American Journal of Human Genetics 87 (3), 392-399, 2010
2852010
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome
R Belostotsky, E Ben-Shalom, C Rinat, R Becker-Cohen, S Feinstein, ...
The American Journal of Human Genetics 88 (2), 193-200, 2011
2262011
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis
CG Monico, S Rossetti, R Belostotsky, AG Cogal, RM Herges, BM Seide, ...
Clinical Journal of the American Society of Nephrology 6 (9), 2289-2295, 2011
1482011
Dent’s disease manifesting as focal glomerulosclerosis: is it the tip of the iceberg?
Y Frishberg, D Dinour, R Belostotsky, R Becker-Cohen, C Rinat, ...
Pediatric Nephrology 24, 2369-2373, 2009
932009
Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria
Y Frishberg, A Zeharia, R Lyakhovetsky, R Bargal, R Belostotsky
Journal of Medical Genetics 51 (8), 526-529, 2014
772014
Primary hyperoxaluria type III—a model for studying perturbations in glyoxylate metabolism
R Belostotsky, JJ Pitt, Y Frishberg
Journal of molecular medicine 90, 1497-1504, 2012
702012
Human mitochondrial tRNA quality control in health and disease: a channelling mechanism?
R Belostotsky, Y Frishberg, N Entelis
RNA biology 9 (1), 33-39, 2012
372012
A piggybacking mechanism enables peroxisomal localization of the glyoxylate cycle enzyme Mdh2 in yeast
S Gabay-Maskit, LD Cruz-Zaragoza, N Shai, M Eisenstein, C Bibi, ...
Journal of cell science 133 (24), jcs244376, 2020
312020
Metabolite diagnosis of primary hyperoxaluria type 3
L Greed, F Willis, L Johnstone, S Teo, R Belostotsky, Y Frishberg, J Pitt
Pediatric Nephrology 33, 1443-1446, 2018
292018
4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3
JJ Pitt, F Willis, N Tzanakos, R Belostotsky, Y Frishberg
JIMD Reports, Volume 15, 1-6, 2015
262015
Novel therapeutic approaches for the primary hyperoxalurias
R Belostotsky, Y Frishberg
Pediatric Nephrology 36 (9), 2593-2606, 2021
202021
Catabolism of hydroxyproline in vertebrates: Physiology, evolution, genetic diseases and new siRNA approach for treatment
R Belostotsky, Y Frishberg
International journal of molecular sciences 23 (2), 1005, 2022
152022
Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria
R Belostotsky, R Lyakhovetsky, MY Sherman, F Shkedy, S Tzvi-Behr, ...
Journal of Molecular Medicine 96, 621-630, 2018
152018
Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge
R Becker-Cohen, R Belostotsky, E Ben-Shalom, S Feinstein, C Rinat, ...
Pediatric Nephrology 24, 403-406, 2009
102009
Association of post-transplantation anellovirus viral load with kidney transplant rejection in children
Y Eldar-Yedidia, E Ben-Shalom, M Hillel, R Belostotsky, O Megged, ...
Pediatric Nephrology, 1-10, 2022
92022
Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease
R Bar, E Ben-Shalom, M Duvdevani, R Belostotsky, MR Pollak, DB Mount, ...
The Journal of Urology 205 (5), 1394-1399, 2021
42021
A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease
M Bitsori, E Vergadi, E Galanakis
Journal of Pediatric Genetics 8 (04), 235-239, 2019
22019
Kasuistik einer Oxalose-Arthropathie und aktueller Überblick
U Lange, M Reuss-Borst, G Dischereit
Aktuelle Rheumatologie 43 (03), 224-227, 2018
12018
The metabolic basis of primary hyperoxaluria type 3
JJ Pitt, R Belostotsky, Y Frishberg
JOURNAL OF INHERITED METABOLIC DISEASE 35, S24-S24, 2012
12012
WCN24-1136 URINE SINGLE-CELL RNA-SEQUENCING IN MINIMAL CHANGE DISEASE
Y Frishberg, F Shkedy, R Belostotsky
Kidney International Reports 9 (4), S513, 2024
2024
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