On the screening for inborn errors of galactose metabolism
- PMID: 6606384
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On the screening for inborn errors of galactose metabolism
Ann Genet.
1983.
Abstract
The utility of a simplified diagram of procedures for screening specimens for genetic disorders in galactose metabolism is stressed. Both, early detection and institution of the dietetic treatment are imperative since these inherited disorders have clinical and pathological consequences which can be very severe in galactose-1-phosphate uridyltransferase and uridine diphosphate galactose-4-epimerase deficiencies.
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