Peroxisome mosaicism in the livers of peroxisomal deficiency patients.

@article{Espeel1995PeroxisomeMI,
  title={Peroxisome mosaicism in the livers of peroxisomal deficiency patients.},
  author={Marc F. A. Espeel and Hanna Mandel and Florence Poggi and Jan A M Smeitink and Ronald Wanders and Ingrid Kerckaert and Ruud B. H. Schutgens and Jean Marie Saudubray and Bwee Tien Poll-The and Frank Roels},
  journal={Hepatology},
  year={1995},
  volume={22 2},
  pages={497-504}
}
Peroxisomal deficiency disorders, which are genetically transmitted, are assumed to be expressed in all cells, and the use of cultured skin fibroblasts for diagnosis and research is based on this assumption. We describe three patients with clinical, biochemical, and microscopic evidence of a peroxisomal disorder. However, their liver displays mosaicism, i.e., parenchymal cells with peroxisomes are adjacent to cells without peroxisomes. Ten percent (volume), 8%, and less than 1% of the… CONTINUE READING

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