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  • Title: [Late diagnosis of classical galactosemia. An adult with special biochemistry].
    Author: Weits-Binnerts JJ, Hordijk R, Smit GP, van der Veer E, Reijngoud DJ, Berger R.
    Journal: Tijdschr Kindergeneeskd; 1993 Oct; 61(5):188-90. PubMed ID: 8266315.
    Abstract:
    The atypical case history of a galactosemic patient who was not recognized as such until his 22nd year is described. As in classical galactosemia there was not found any galactose-1-phosphate uridyl transferase activity in the erythrocytes. However, after the patient was on a galactose-free diet, there was no demonstrable elevation of galactose-1-phosphate in the erythrocytes. We would advocate a limited screening on galactosemia.
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