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E Pronicka

Publications and source records attributed to E Pronicka.

At least 73 records · Page 4Linked to original sources
PubMed1981

Three cases of beta-galactosidase deficiency.

A clinical description of three cases of beta-galactosidase deficiency is presented. Two cases are classical for infant type GM1-gangliosidosis, the third is characterised by dysostosis multiplex with growth retardation and of normal intelligence. Laboratory data revealed mucopolysaccharides in the urine of all described patients in a high level of normal values and increased excretion of oligosaccharides in the urine. Both patients with a classical picture of GM1-gangliosidosis have a very low activity of beta-galactosidase, activity of beta-galactosidase in their parents cells is diminished by 50% of control. In the third nontypical case enzyme deficiency was less expressed. These cases emphasize the variability of the clinical expression in beta-galactosidase deficiency.

Child↗
PubMed1979

The child with chromosome ring 15.

A case of ring chromosome was reported. By application of different techniques it was identified as 15 r. The boy 19 months old was of a short stature, small skull and slight psychomotoric retardation.

Child Development↗