Studies on the Pathogenetic Mechanism of I-Cell Disease in Cultured Fibroblasts

@article{Wiesmann1974StudiesOT,
  title={Studies on the Pathogenetic Mechanism of I-Cell Disease in Cultured Fibroblasts},
  author={Ulrich N. Wiesmann and Norbert N Herschkowitz},
  journal={Pediatric Research},
  year={1974},
  volume={8},
  pages={865-870}
}
Extract: A marked intracellular reduction of six lysosomal enzymes could be demonstrated in fibroblasts from four different patients with mucolipidosis type II or I-cell disease. In contrast to that finding, conditioned media from the same cells contained a 2—10-fold increase of the activities of five lysosomal enzymes over control values. In obligate heterozygotes elevated lysosomal enzyme activities in the conditioned media were also found, but normal enzyme activities were measured… CONTINUE READING

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