Marked heterogeneity in Niemann-Pick disease, type C. Clinical and ultrastructural findings.

@article{Natowicz1995MarkedHI,
  title={Marked heterogeneity in Niemann-Pick disease, type C. Clinical and ultrastructural findings.},
  author={Marvin R Natowicz and Joan Marilyn Stoler and Elizabeth M. Prence and Laura Liscum},
  journal={Clinical pediatrics},
  year={1995},
  volume={34 4},
  pages={190-7}
}
Niemann-Pick disease type C (NP-C) is an autosomal recessive lysosomal lipid storage disorder of unknown etiology. Diagnosis of NP-C is based on characteristic clinical findings and reduced fibroblast esterification of LDL-derived cholesterol. We describe three patients who demonstrate the NP-C spectrum of clinical heterogeneity in age of onset, presenting signs, pattern of organ system involvement, and natural history. In addition, electron microscopic analysis of skin biopsy specimens from… CONTINUE READING

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