Diagnosis of classical galactosaemia.
Open Access
- 1 December 1977
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 52 (12) , 943-946
- https://doi.org/10.1136/adc.52.12.943
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.Keywords
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