Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration.

@article{Stevenson1978BetagalactosidaseDP,
  title={Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration.},
  author={Roger E Stevenson and Harold A. Taylor and Stephen E. Parks},
  journal={Clinical genetics},
  year={1978},
  volume={13 3},
  pages={305-13}
}
Three adult patients from two families have shown slowly progressive neurologic deterioration since the age of 3 years, associated with profound beta-galactosidase deficiency. Although affected individuals from the two different families differ in degree of intellectual deficit, facial coarseness and spondyloepiphyseal dysplasia, all lack visceromegaly and macular red spots. The diversity of phenotypic expression in these patients and others previously reported suggests the existence of… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-3 of 3 extracted citations

Similar Papers

Loading similar papers…