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Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1977 Dec;52(12):943–946. doi: 10.1136/adc.52.12.943

Diagnosis of classical galactosaemia.

A M Monk, A J Mitchell, D W Milligan, J B Holton
PMCID: PMC1545032  PMID: 606167

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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