Disialotransferrin developmental deficiency syndrome.

@article{Kristiansson1989DisialotransferrinDD,
  title={Disialotransferrin developmental deficiency syndrome.},
  author={Barbara Kristiansson and Magnus L. Andersson and B. Tonnby and Bengt Hagberg},
  journal={Archives of disease in childhood},
  year={1989},
  volume={64 1},
  pages={71-6}
}
Seven mentally deficient children and adolescents (three pairs of siblings and one singleton) were studied. A peculiar external appearance, a characteristic neurohepatosubcutaneous tissue impairment syndrome and, as a biological marker, an abnormal sialic acid transferrin pattern were characteristic features. All seven seemed odd from birth and prone to acute cerebral dysfunction during catabolic states. Abnormal lower neurone, cerebellar, and retinal functions dominated from later childhood… CONTINUE READING
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