Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts.

@article{Sengers1975InfantileGD,
  title={Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts.},
  author={Rob C. A. Sengers and Karel J B Lamers and J. A. J. M. Bakkeren and Egbert D. A. M. Schretlen and J M Frans Trijbels},
  journal={Neuropadiatrie},
  year={1975},
  volume={6 4},
  pages={377-82}
}
A patient with infantile Gancher's disease is described. A marked decrease of the activity of beta-glucosidase at the lower pH 4.2 was found in peripheral blood leukocytes, whereas in cultured skin fibroblasts the activity at both pH'S 4.2 and 5.2 was decreased. Examining the leukocytes of the heterozygous parents the activities of beta-glucosidase at both pH's were within the values of controls, but the ratio's of activity of pH 5.2 to that at pH 4.2 were increased lying between the ratio's… CONTINUE READING
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