Literature DB >> 8295413

UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with unilateral cataract.

K H Schulpis1, E D Papaconstantinou, A Koidou, H Michelakakis, J Tzamouranis, A Patsouras, Y Shin.   

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Year:  1993        PMID： 8295413     DOI： 10.1007/BF00714292

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography.

Authors:  R Humbel; M Collart
Journal:  Clin Chim Acta       Date:  1975-04-16       Impact factor: 3.786

2.  Cataracts in children with classical galactosaemia and in their parents.

Authors:  J P Burke; M O'Keefe; R Bowell; E R Naughten
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families.

Authors:  R Gitzelmann; B Steinmann; B Mitchell; E Haigis
Journal:  Helv Paediatr Acta       Date:  1977-04
  3 in total
  4 in total

1.  UDPgalactose epimerase in lens and fibroblasts: activity expression in patients with cataracts and mental retardation.

Authors:  Y S Shin; G C Korenke; P Huppke; I Knerr; T Podskarbi
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Epimerase-deficiency galactosemia is not a binary condition.

Authors:  Kimberly K Openo; Jenny M Schulz; Claudia A Vargas; Corey S Orton; Michael P Epstein; Rhonda E Schnur; Fernando Scaglia; Gerard T Berry; Gary S Gottesman; Can Ficicioglu; Alfred E Slonim; Richard J Schroer; Chunli Yu; Vanessa E Rangel; Jennifer Keenan; Kerri Lamance; Judith L Fridovich-Keil
Journal:  Am J Hum Genet       Date:  2005-11-14       Impact factor: 11.025

3.  Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.

Authors:  T M Wohlers; N C Christacos; M T Harreman; J L Fridovich-Keil
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

4.  Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.

Authors:  Shari Javadiyan; Sionne E M Lucas; Dechen Wangmo; Meng Ngy; Kapila Edussuriya; Jamie E Craig; Adam Rudkin; Robert Casson; Dinesh Selva; Shiwani Sharma; Karen M Lower; James Meucke; Kathryn P Burdon
Journal:  Mol Genet Genomic Med       Date:  2018-05-16       Impact factor: 2.183
  4 in total

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