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Research Article
A new peroxisomal disorder with fetal and neonatal adrenal insufficiency.
  1. C Vanhole,
  2. F de Zegher,
  3. P Casaer,
  4. H Devlieger,
  5. R J Wanders,
  6. G Vanhove,
  7. J Jaeken
  1. Department of Paediatrics, University of Leuven, Belgium.

    Abstract

    A boy with a new type of adrenoleukodystrophy is described. This was characterised by fetal and neonatal adrenal insufficiency, a neurological picture as seen in neonatal adrenoleukodystrophy, but with a normal number of peroxisomes in the liver and a peroxisomal dysfunction limited to the very long chain fatty acids and pristanic acid.

    https://doi.org/10.1136/fn.71.1.F55

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