Clinical and experimental nephrology, 15(5), 745-748 (2011-06-01)
Fanconi-Bickel syndrome is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. Most cases have been reported from Europe, Japan, Turkey and the Mediterranean belt. We report a
Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy, 79(5), 1304-1307 (2011-06-07)
An EPR and optical studies of VO2+ doped potassium dihydrogen citrate (PDHC) single crystals have been carried out at room temperature. It crystallizes in triclinic symmetry with the unit cell dimensions: a=11.343Å, b=13.078Å, c=6.272Å, α=89.79°, β=94.36°, γ=104.2°. The angular variation
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 27(5), 1729-1736 (2012-05-02)
Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis.
Children with idiopathic hypercalciuria (IH) may have a reduced bone mineral density (BMD), which could impact on bone health in adulthood. There is currently no strong evidence for a preferred treatment of such children. The aim of our study was
Clinical journal of the American Society of Nephrology : CJASN, 7(9), 1461-1472 (2012-07-10)
Acidosis and transplantation are associated with increased risk of bone disturbances. This study aimed to assess bone morphology and metabolism in acidotic patients with a renal graft, and to ameliorate bone characteristics by restoration of acid/base homeostasis with potassium citrate.
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