Features and outcome of galactokinase deficiency in children diagnosed by newborn screening
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-010-9270-8
Reference23 articles.
1. Allen JT, Holton JB, Lennox AC, Hodges IC (1988) Early morning urine galactitol levels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency. J Inher Metab Dis 11(Suppl 2):243–245
2. Beutler E, Baluda MC (1966) A simple spot screening test for galactosemia. J Lab Clin Med 68:137–141
3. Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJA, Wijburg FA (2002) Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis 25:629–634
4. Gitzelmann R (1965) Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. Lancet 2:670–671
5. Gitzelmann R (1967) Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts. Pediatr Res 1:14–23
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