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Chapter
Congenital Chloride Losing Enteropathy Associated with Tophaceous Gouty Arthritis
Congenital chloride losing enteropathy (familial chloride diarrhoea, congenital chloridorrhea)(1) is a recessively inherited disorder which results from a defect in chloride/bicarbonate exchange in the ileum. ...
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Article
Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: Characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA
Three brothers who developed acute gouty arthritis at ages 16, 20 and 26 years were found to have increased plasma urate. Erythrocyte hypoxanthine phosphoribosyltransferase (HPRT) activity was less than 1% of ...
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Article
Corticosteroids and bone
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Chapter
Purine and Pyrimidine Nucleotide Concentrations in Cells with Decreased Hypoxanthine-Guanine-Phosphoribosyltransferase (HGPRT) Activity
Severe and partial deficiency of the enzyme Hypoxanthineguanine-phosphoribosyl-transferase (HGPRT) (EC.2.4.2.8.) is associated with accelerated rates of purine biosynthesis de novo, both in vivo (1,2,3) and in cu...