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Biomedical subjects

J P Colombo

Publications and source records attributed to J P Colombo.

At least 145 records · Page 8Linked to original sources
PubMed1975

Methylmalonic acidaemia and nonketotic hyperglycinaemia. Clinical and biochemical aspects.

The clinical and metabolic data of 2 cases of methylmalonic acidaemia with propionic acidaemia are reported together with those of 3 other patients with nonketotic hyperglycinaemia. Liver enzymatic studies showed decreased activity in vitro of the glycine cleavage enzyme in one patient with methylmalonic acidaemia as well as in 2 unrelated patients with nonketotic hyperglycinaemia, while the activity of the serine hydroxymethylase enzyme was normal. Hyperammonaemia was substantiated in one patient with methylmalonic acidaemia and also in one child with nonketotic hyperglycinaemia. The activity of the enzymes of the urea cycle, determined in the liver of this nonketotic child, was normal except for a decrease of the carbamyl phosphate synthetase enzyme to 15% of normal.

Amino Acid Metabolism, Inborn Errors↗
PubMed1975

[The determination of chloride in plasma and serum (mercury(II)-thiocyanate method) with the Greiner Electronic Selective Analyzer GSA II (author's transl)].

1. A mercury(II)-thiocyanate method for the determination of chloride in plasma and serum was adapted for the Greiner Electronic Selective Analyzer GSA II. A sample blank value and a partial reagent blank value were determined by omitting thiocyanate from the control system. 2. The course of the reaction was investigated. For a reaction time of 350-500 s, the response was linear between 30 and 130 mmol/l. Between 90 and 110 mmol/l, the deviation between the actual and the theoretical value is less than 1%. 3. The calibration must be checked and, if necessary, restandardized; this is probably due to variable contamination of the reagents with chloride ions. 4. Haemolysis, lipaemia and bilirubin do not interfere. Protein has no effect on the course of the reaction. 5. At concentrations around 100 mmol/l, the in series precision, expressed as the variation coefficient (%), is 0.3-0.6% for aqueous solutions, 0.4-0.8% for liquid control sera, and 0.8-1.5% for lyophilized control sera. 6. No carry over was detectable from samples containing 150 to those containing 10 mmol/l.

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