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Research Article
Diagnosis of classical galactosaemia.
  1. A M Monk,
  2. A J Mitchell,
  3. D W Milligan,
  4. J B Holton

    Abstract

    We report a child with classical galactosaemia whose diagnosis was missed until 12 weeks of age. The limitations of urine screening tests are discussed and the wider use of a qualitative enzyme assay for screening is recommended. Reference ranges for a quantitative enzyme assay using 14galacoste-1-phosphate as substrate are presented.

    https://doi.org/10.1136/adc.52.12.943

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