Peritoneal dialysis for acute kidney injury
B Cullis, M Abdelraheem, G Abrahams… - Peritoneal dialysis …, 2014 - journals.sagepub.com
Methods These guidelines have been developed under the auspices of the International
Society of Peritoneal Dialysis to help standardize practice, based on the available evidence …
Society of Peritoneal Dialysis to help standardize practice, based on the available evidence …
[HTML][HTML] Lumasiran, an RNAi therapeutic for primary hyperoxaluria type 1
SF Garrelfs, Y Frishberg, SA Hulton… - New England journal …, 2021 - Mass Medical Soc
Background Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic
overproduction of oxalate that leads to kidney stones, nephrocalcinosis, kidney failure, and …
overproduction of oxalate that leads to kidney stones, nephrocalcinosis, kidney failure, and …
[PDF][PDF] Mutations in DHDPSL are responsible for primary hyperoxaluria type III
R Belostotsky, E Seboun, GH Idelson… - The American Journal of …, 2010 - cell.com
Primary hyperoxaluria (PH) is an autosomal-recessive disorder of endogenous oxalate
synthesis characterized by accumulation of calcium oxalate primarily in the kidney …
synthesis characterized by accumulation of calcium oxalate primarily in the kidney …
[HTML][HTML] ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
HY Gee, P Saisawat, S Ashraf, TW Hurd… - The Journal of …, 2013 - Am Soc Clin Investig
Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and-resistant (SRNS)
variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease …
variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease …
[PDF][PDF] 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… - The American Journal of …, 2011 - cell.com
An uncharacterized multisystemic mitochondrial cytopathy was diagnosed in two infants
from consanguineous Palestinian kindred living in a single village. The most significant …
from consanguineous Palestinian kindred living in a single village. The most significant …
Hyperostosis–Hyperphosphatemia Syndrome: A Congenital Disorder of O‐Glycosylation Associated With Augmented Processing of Fibroblast Growth Factor 23
Y Frishberg, N Ito, C Rinat, Y Yamazaki… - Journal of Bone and …, 2007 - academic.oup.com
Two hyperphosphatemic patients with mutations in GALNT3 showed low intact FGF23 levels
with marked increase of processed C‐terminal fragments. FGF23 protein has three O‐linked …
with marked increase of processed C‐terminal fragments. FGF23 protein has three O‐linked …
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis
CG Monico, S Rossetti, R Belostotsky… - Clinical Journal of the …, 2011 - journals.lww.com
Results Of 28 unrelated hyperoxaluric patients with marked hyperoxaluria not due to PHI,
PHII, or any identifiable secondary cause, we identified 10 (36%) with two HOGA1 mutations …
PHII, or any identifiable secondary cause, we identified 10 (36%) with two HOGA1 mutations …
[HTML][HTML] Mutations of NPHP2 and NPHP3 in infantile nephronophthisis
K Tory, C Rousset-Rouviere, MC Gubler, V Moriniere… - Kidney international, 2009 - Elsevier
Nephronophthisis is an autosomal recessive chronic tubulointerstitial disease that
progresses to end-stage renal disease (ESRD) in about 10% of cases during infancy …
progresses to end-stage renal disease (ESRD) in about 10% of cases during infancy …
Primary hyperoxalurias: diagnosis and treatment
E Ben-Shalom, Y Frishberg - Pediatric nephrology, 2015 - Springer
Primary hyperoxalurias (PH) comprise a group of three distinct metabolic diseases caused
by derangement of glyoxylate metabolism in the liver. Recent years have seen advances in …
by derangement of glyoxylate metabolism in the liver. Recent years have seen advances in …
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children
Y Frishberg, C Rinat, O Megged… - Journal of the …, 2002 - journals.lww.com
Steroid-resistant nephrotic syndrome (SRNS) represents a heterogeneous group of kidney
disorders that are often resistant to other immunosuppressive agents and tend to progress to …
disorders that are often resistant to other immunosuppressive agents and tend to progress to …