Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.

@article{Obrien1976SpondyloepiphysealDC,
  title={Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.},
  author={John S. O'brien and Eduard Gugler and Andres Giedion and U Wiessmann and Norbert N Herschkowitz and Christoph Meier and J. F. Leroy},
  journal={Clinical genetics},
  year={1976},
  volume={9 5},
  pages={495-504}
}
A 14-year-old girl with a unique type of progressive spondyloepiphyseal dysplasia, corneal clouding, and no evidence of neurological abnormality, was found to have a remarkable deficiency of acid beta-galactosidase activity in cultured skin fibroblasts and in leucocyte preparations. In fibroblasts, ganglioside GM1 beta-galactosidase activity averaged 7% of the normal mean while asialofetuin beta-galactosidase and 4-methylumbe lifery-beta-galactosidase averaged 1.4% and 3.5%, respectively… CONTINUE READING

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