References
Burke JP, Keefe M, Bowell R, Naughten ER (1988) Cataracts in children with classial galactosaemia and in their parents.J Inher Metab Dis 11 (Suppl 2): 246–248.
Gitzelmann R, Steinmann B, Mitchel B, Haigis E (1976) Uridine diphosphate galactose-4-epimerase deficiency.Helv Paediatr Acta 31: 441–446.
Hunbel R, Collart M (1975) Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin layer chromatography.Clin Chim Acta 60: 143–145.
Shin YS, Endres W, Rieth M (1985) Metabolic patterns and clinical expressions of uridine-diphosphogalactose epimerase deficiency.Pediatr Res 19: 1075.
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Schulpis, K.H., Papaconstantinou, E.D., Koidou, A. et al. UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with unilateral cataract. J Inherit Metab Dis 16, 903–904 (1993). https://doi.org/10.1007/BF00714292
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DOI: https://doi.org/10.1007/BF00714292