Published in Pediatr Nephrol on September 13, 2008
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Mutations in DHDPSL are responsible for primary hyperoxaluria type III. Am J Hum Genet (2010) 2.32
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol (2004) 2.09
Genetic analysis--a diagnostic tool for primary hyperoxaluria type I. Pediatr Nephrol (2002) 2.07
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. Am J Hum Genet (2011) 1.86
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. Clin J Am Soc Nephrol (2011) 1.79
Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. J Bone Miner Res (2007) 1.52
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest (2013) 1.52
Cadaver-donor renal transplantation of children in Israel (1990-2001): racial disparities in health care delivery? Pediatrics (2003) 1.50
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet (2007) 1.36
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol (2002) 1.21
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. Kidney Int (2009) 1.19
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. Am J Hum Genet (2008) 1.18
Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg? Pediatr Nephrol (2009) 1.15
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. Hum Mutat (2002) 1.05
Retinitis pigmentosa and renal failure in a patient with mutations in INVS. Nephrol Dial Transplant (2006) 1.02
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel. Am J Nephrol (2005) 0.95
Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency. Biochem Biophys Res Commun (2003) 0.95
Improved left ventricular mass index in children after renal transplantation. Pediatr Nephrol (2008) 0.92
Is noncompliance among adolescent renal transplant recipients inevitable? Pediatrics (2005) 0.92
Complications of central venous stenosis due to permanent central venous catheters in children on hemodialysis. Pediatr Nephrol (2014) 0.89
Primary hyperoxaluria type III--a model for studying perturbations in glyoxylate metabolism. J Mol Med (Berl) (2012) 0.89
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. Ann Neurol (2002) 0.89
Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community. Genet Med (2007) 0.87
Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake. Pediatr Nephrol (2014) 0.86
A comprehensive study of cardiovascular risk factors, cardiac function and vascular disease in children with chronic renal failure. Nephrol Dial Transplant (2009) 0.85
Human mitochondrial tRNA quality control in health and disease: a channelling mechanism? RNA Biol (2012) 0.85
The outcome of chronic dialysis in infants and toddlers--advantages and drawbacks of haemodialysis. Nephrol Dial Transplant (2007) 0.83
4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3. JIMD Rep (2014) 0.83
Risk factors for cardiovascular disease in children and young adults after renal transplantation. Clin J Am Soc Nephrol (2006) 0.82
B-type natriuretic peptides are reliable markers of cardiac strain in CKD pediatric patients. Pediatr Nephrol (2011) 0.81
Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease. Mol Genet Metab (2005) 0.81
The heart of children with steroid-resistant nephrotic syndrome: is it all podocin? J Am Soc Nephrol (2005) 0.80
A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome. Mol Genet Metab (2003) 0.79
Hyperphosphatemia is prevalent among children with nephrotic syndrome and normal renal function. Pediatr Nephrol (2006) 0.77
Hyperhomocysteinemia in children on renal replacement therapy. Pediatr Nephrol (2002) 0.77
Quantification of Atherosclerotic Burden in the Descending Aorta by Transesophageal Echocardiography: Inter- and Intraobserver Variability. Echocardiography (1998) 0.77
Utilizing chimeric proteins for exploring the cellular fate of endogenous proteins. Biochem Biophys Res Commun (2002) 0.77
Vitamin A deficiency associated with urinary retinol binding protein wasting in Dent's disease. Pediatr Nephrol (2012) 0.77
Primary hyperoxalurias: diagnosis and treatment. Pediatr Nephrol (2014) 0.77
Mutated podocin manifesting as CMV-associated congenital nephrotic syndrome. Pediatr Nephrol (2003) 0.75
A comprehensive assessment of renal function in patients with Gaucher disease. Am J Kidney Dis (2005) 0.75
Utilizing a GnRH-based chimeric protein for the detection of adenocarcinoma. Int J Oncol (2005) 0.75
Novel selective human mitochondrial kinase inhibitors: design, synthesis and enzymatic activity. Bioorg Med Chem (2007) 0.75
Hypernatremic Dehydration in Young Children: Is There a Solution? Isr Med Assoc J (2016) 0.75
[Vibrio vulnificus infection outside of the fish ponds in northern Israel: acquisition in the "Einot Tzukim" springs near the Dead Sea]. Harefuah (2009) 0.75