Diagnosis of classical galactosaemia.
نویسندگان
چکیده
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.
منابع مشابه
Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90.
Ascertainment of cases of classical galactosaemia over a three year period in the UK and the Republic of Ireland, through the British Paediatric Surveillance Unit, identified 58 proved cases and two in whom the diagnosis was strongly suspected. One patient died at 4 days, and severe morbidity was no more frequent in babies diagnosed clinically because of their symptoms compared with those who w...
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عنوان ژورنال:
- Archives of disease in childhood
دوره 52 12 شماره
صفحات -
تاریخ انتشار 1977