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A J Mitchell

Publications and source records attributed to A J Mitchell.

3 recordsLinked to original sources

Diagnosis of classical galactosaemia.

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.

Clinical Enzyme Tests