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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Lens sorbitol dehydrogenase deficiency in a patient with congenital cataract.

Lens sorbitol dehydrogenase activity was assayed in patients with congenital cataracts, senile cataracts, without cataracts and in one fetal lens. In patients with congenital cataracts we did not observe any abnormality of galactose and sorbitol metabolising enzymes in erythrocytes. In one of these patients with inexplicable congenital cataracts lens sorbitol dehydrogenase deficiency was found. Conclusion: Determination of galactose metabolising enzymes, sorbitol dehydrogenase and polyols in lenses may help in understanding the mechanism of formation of inexplicable congenital cataracts.[1]


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