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Biomedical subjects

Y Mardens

Publications and source records attributed to Y Mardens.

32 records · Page 2Linked to original sources

Intravenous loading with arginine-hydrochloride and ornithine-aspartate in siblings of two families, presenting a familial neurological syndrome associated with cystinuria.

1. Arginine-hydrochloride and ornithine-aspartate solutions have been infused intravenously to children of two families. Three children of the WOL. family are affected with hyperargininemia and hyperammonemia, due to a lack of arginase. They present a secondary cystine-lysinuria. The three WIL. siblings are suffering from muscular hypotonia, dwarfism, incomplete renal tubular acidosis and primary cystinuria. 2. The aim was to verify how and to what extent the artificial rise of one serum amino acid could influence the serum concentrations and the urinary losses of the other amino acids. The results found for the serum have been submitted to a statistical analysis of variance. 3. The variations observed for the amino acids of the urea cycle can be interpreted as being the reflections of known metabolic pathways. 4. Additional remarks are made on a paradox in the lysinemia-lysinuria relation after arginine infusion, with a simultaneous rise of this essential amino acid in serum and urine.

Amino Acids↗

A rapid gas-liquid chromatographic determination of serum levels of phenobarbital and diphenyllhydantoin.

This report describes a simple gas-liquid chromatographic method for the simultaneous determination of phenobarbital and diphenylhydantoin in serum or plasma. The procedure involves a simple extraction with an isobutylmethyl ketone/n-hexane mixture, on-column ethylation with a methanolic solution of tetraethylammonium hydroxide, and analysis on a flame ionisation chromatograph. This method offers advantages of accuracy, sensitivity and rapidity. No interference from other constituents of blood was found. This reliable technique is well adapted to the routine monitoring of epileptic patients.

Chromatography, Gas↗

Carnosinaemia.

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Adolescent↗

[Pathological and biochemical studies on a neonatal case of argininosuccinic aciduria (author's transl)].

A newborn infant affected by argininosuccinic aciduria was treated with a hypoproteinaemic diet and survived up to the age of three months. Post mortem biochemical studies have confirmed the absence of argininosuccinase activity in kidney, liver and brain and a marked storage of argininosuccinic acid in the brain. The histological study of the central nervous system shows no Alzheimer type II cells; there is neither demyelination nor spongiosis. Such results are totally different from those recorded in untreated cases; they represent very likely the effects of the diet which has controlled the hyperammoniaemia and prevented a deficiency of arginine.

Amino Acid Metabolism, Inborn Errors↗