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Research Article
Fetal ascites: an unusual presentation of Niemann-Pick disease type C.
  1. I K Maconochie,
  2. S Chong,
  3. G Mieli-Vergani,
  4. B D Lake,
  5. A P Mowat
  1. Department of Child Health, King's College Hospital, London.

    Abstract

    Two infants were seen with severe ascites detected before birth, a previously unreported presentation of Niemann-Pick disease type C. In the second infant no diagnostic storage cells were present in bone marrow. Confirmatory investigations were prompted by experience of the first case.

    https://doi.org/10.1136/adc.64.10_Spec_No.1391

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