Article
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study.
Pediatric research - 1 Sept 2015
Knerr Ina, Coss Karen Patricia, Kratzsch Jürgen, Crushell Ellen, Clark Anne, Doran Peter, Shin Yoon, Stöckmann Henning, Rudd Pauline Mary, Treacy Eileen
Abstract excerpt
BACKGROUND: Classical galactosemia is caused by severe galactose-1-phosphate uridyltransferase deficiency. Despite life-long galactose-restriction, many patients experience long-term complications. Intoxication by galactose and its metabolites as well as over-restriction of galactose may contribute to the pathophysiology. We provided temporary low-dose galactose supplements to patients. We assessed tolerance and...
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