The third workshop on primary hyperoxaluria

Primary Hyperoxaluria

Primary hyperoxalurias are rare recessive inherited inborn errors of glyoxylate metabolism. They are responsible for progressive renal involvement, which further lead to systemic oxalate deposition, which can even occur in infants. Primary hyperoxaluria type 1 is the most common form in Europe and is due to alanine-glyoxylate aminostransferase deficiency, a hepatic peroxisomal pyridoxin-depende...

Primary hyperoxaluria

Supporters: Third Workshop on

The purpose of an information retrieval (IR) system is to help users accomplish a task. IR system evaluation should consider both task success and the value of support given over the entire information seeking episode. Relevance-based measurements fail to address these requirements. In this paper, usefulness is proposed as a basis for IR evaluation.

Treatment of primary hyperoxaluria.

progress are discussed in relation to the known natural history of the disease. 6 of them probably have the usual form of primary hyperoxaluria associated with increased glycollic acid excretion, while 3 who are sibs have the recently described variant associated with L-glyceric aciduria and normal glycollic acid excretion. All 9 patients have been on regimens designed to increase the urinary s...

Biochemical studies on the treatment of primary hyperoxaluria.

The increased urinary oxalate excretion which is characteristic of primary hyperoxaluria causes recurrent urinary calculi and nephrocalcinosis, with death at an early age (Hall, Scowen, and Watts, 1960; Hockaday, Clayton, Frederick, and Smith, 1964), and no effective treatment for the disease has been reported. Glyoxylate is the main immediate metabolic precursor of oxalate, and if the enzyme o...