Plasma polyol levels in patients with cataract
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799509
Reference14 articles.
1. Brivet, M., Abadie, V., Soni, T., Cheron, G. and Dufier, J. L. Inexplicable infantile cataracts and partial maternal galactose disorder.Arch. Dis. Child. 61 (1986) 445–448
2. Harley, J. D., Mutton, P., Irvine, S. and Gupta, J. D. Maternal enzymes of galactose metabolism and the ‘inexplicable’ infantile cataract.Lancet 2 (1974) 259–261
3. Holton, J. B., Gillett, M. G., MacFaul, R. and Young, R. Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.Arch. Dis. Child. 56 (1981) 885–887
4. Jakobs, C., Warner, T. G., Sweetman, L. and Nyhan, W. L. Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia.Pediatr. Res. 18 (1984) 714–718
5. Jakobs, C., Douwes, A. C., Kok, R. M., De Jong, A., Endres, W. and Shin, Y. S. Elevated plasma galactitol levels in patients with congenital cataracts without enzyme defects.Eur. J. Pediatr. 147 (1988) 446
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1. Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations;Acta Ophthalmologica;2010-03-10
2. Frühkindliche Katarakt bei familiärem UDP-Galaktose-4-Epimerase-Mangel - eine Kasuistik12;Klinische Monatsblätter für Augenheilkunde;2001-02
3. UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation;Journal of Inherited Metabolic Disease;2000-06
4. Familiäre Katarakt bei Galaktitol-Erhöhung im Plasma ohne bekannten Enzymdefekt;Klinische Monatsblätter für Augenheilkunde;1999-10
5. Identification and Characterization of a Mutation, in the Human UDP-Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia;The American Journal of Human Genetics;1999-02
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