Frances J. Dryburgh

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N-Acetylglutamate synthetase (NAGS, EC deÐciency (McKusick 237310) catalyses the synthesis of N-acetylglutamate (NAG), an obligatory activator of carbamyl phosphate synthetase, the Ðrst step in the urea cycle. To date, seven families with NAGS deÐciency have been reported (for a review see Gu†on et al 1995). The clinical picture varies throughout(More)
Immobilization-related hypercalcaemia is an uncommon but important condition being associated not infrequently with both urolithiasis and osteoporosis. In this study 5 patients who had been immobilized for a mean of 3 months and had a mean adjusted serum calcium of 3.15 mmol/l were treated with doses of intravenous pamidronate ranging between 10 mg and 45(More)
Many enzyme assays are linked to the formation or utilisation of NADH so that reaction rates can be monitored at 340 nm. The absorbance spectrum of naphthol green is sufficiently different from that of NADH to render calibration using this substance undesirable, and NADH or the particular chromophore used to monitor the reaction, e.g. p-nitrophenol, should(More)
Several aspects of calcium metabolism were studied in five patients during the surgical exploration of malignant tumours associated with humorally-mediated hypercalcaemia. Before operation in all patients the renal tubular threshold for calcium reabsorption was raised and the threshold for renal tubular phosphate reabsorption depressed. On removal of the(More)
A simple procedure is described for the preparation of a stable precision quality control material for use in the measurement of level of ionised calcium in serum at or near the reference range. Repeat analyses on a Nova 2 ionised calcium analyser of serum pools stored at different temperatures over a period of three months showed coefficients of variation(More)
An out-of-hours emergency biochemistry service, which allows access by all medical practitioners of varying experience within a hospital, can lead to overuse or even abuse of limited and costly facilities. When the workload increases, problems of staffing a voluntary (but paid) working rota may emerge. An industrial dispute involving medical laboratory(More)
Patient C.S. (13) was found to have a serum calcium of 16.8 and phosphorus of 3.8rag/ 100 mL (after about a week of anorexia and severe vomiting) some eight weeks after bilateral femoral fracture by a lorry, and was very i l l . There was virtual non-union of each fracture and he was a thi% wasted inert boy. Because of clinical urgency, after rapid(More)
The relation between urinary sodium excretion (NaE) and renal tubular calcium reabsorption (TmCa/GFR) was assessed in patients with hypercalcaemia associated with malignancy and primary hyperparathyroidism. On acute saline loading of seven normally hydrated patients with primary hyperparathyroidism and five patients with malignancy, raised values of(More)