PubMed Health⌕ Search

Biomedical subjects

S Krywawych

Publications and source records attributed to S Krywawych.

9 recordsLinked to original sources
PubMed1987

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.

We describe three further children with the DOOR syndrome (deafness, onycho-osteodystrophy and mental retardation). A severe seizure disorder and characteristic facial appearance are part of the syndrome. Fourteen similar cases including the present patients are now on record. Autosomal recessive inheritance is likely. An increased level of 2-oxoglutarate in both plasma and urine has been found in our three patients. It is suggested there may be an inherited metabolic defect in this malformation syndrome.

Abnormalities, Multiple↗
PubMed1986

Glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiency.

A patient aged 23 months with fructose-1,6-diphosphatase deficiency is reported. This infant demonstrated an increased urine excretion of glycerol-3-phosphate during episodes of hypoglycaemia. The excretion of this compound has not previously been described in this disease or in those disorders associated with a deficiency in one of the other three gluconeogenic enzymes associated with hypoglycaemia. Its presence in the urine from patients may be useful in diagnosis.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1986

Alkaptonuria.

Explore the source record for details and available documents.

Adult↗
PubMed1979

Thin-layer chromatography of non-volatile organic acids in clinical chemistry.

The separation of biologically occurring non-volatile organic acids has been examined by thin-layer chromatography using a variety of solvent systems and thin-layer materials. The advantages of the two-dimensional method devised include the simultaneous demonstration of some keto acids as their oximes, sharp definition of the acidic spots, improved resolution over other published methods and rapid development. The method is very suitable for the biochemical diagnosis of known inborn errors of organic acid metabolism.

Adult↗