Plasma polyol levels in patients with cataract.

doi:10.1007/BF01799509

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Article

Plasma polyol levels in patients with cataract.

Journal of inherited metabolic disease - 1 Jan 1990

Jakobs C, Douwes A C, Brockstedt M, Stellaard F, Endres W, Shin Y S

Abstract excerpt

Galactitol and sorbitol concentrations in plasma were determined in patients (with or without cataract) in whom homo- or heterozygosity for galactokinase, galactose-1-phosphate uridyltransferase, systemic or peripheral UDP-galactose epimerase and sorbitol dehydrogenase deficiency was confirmed. F...

Topics

Carbohydrate Epimerases
Cataract
Child, Preschool
Galactitol
Galactokinase
Galactose
Heterozygote
Homozygote
Humans
Infant
Infant, Newborn
Mutation
Polymers
Sorbitol
UDPglucose 4-Epimerase
UTP-Hexose-1-Phosphate Uridylyltransferase

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