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[Late diagnosis of classical galactosemia. An adult with special biochemistry].
- Source :
-
Tijdschrift voor kindergeneeskunde [Tijdschr Kindergeneeskd] 1993 Oct; Vol. 61 (5), pp. 188-90. - Publication Year :
- 1993
-
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.
Details
- Language :
- Dutch; Flemish
- ISSN :
- 0376-7442
- Volume :
- 61
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Tijdschrift voor kindergeneeskunde
- Publication Type :
- Academic Journal
- Accession number :
- 8266315