Publications by authors named "A Tylki"

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.

View Article and Find Full Text PDF