Literature DB >> 10896300

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

Y S Shin1, G C Korenke, P Huppke, I Knerr, T Podskarbi.   

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Year:  2000        PMID： 10896300     DOI： 10.1023/a:1005699719068

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


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  11 in total

1.  Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.

Authors:  B B Quimby; A Alano; S Almashanu; A M DeSandro; T M Cowan; J L Fridovich-Keil
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

2.  Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication.

Authors:  R Gitzelmann
Journal:  Helv Paediatr Acta       Date:  1972-06

3.  A patient with severe type of epimerase deficiency galactosaemia.

Authors:  I B Sardharwalla; J E Wraith; C Bridge; B Fowler; S A Roberts
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

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

Authors:  K H Schulpis; E D Papaconstantinou; A Koidou; H Michelakakis; J Tzamouranis; A Patsouras; Y Shin
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 5.  Cataract and metabolic disease.

Authors:  W Endres; Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

6.  Plasma polyol levels in patients with cataract.

Authors:  C Jakobs; A C Douwes; M Brockstedt; F Stellaard; W Endres; Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

7.  Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.

Authors:  P Maceratesi; N Daude; B Dallapiccola; G Novelli; R Allen; Y Okano; J Reichardt
Journal:  Mol Genet Metab       Date:  1998-01       Impact factor: 4.797

8.  Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.

Authors:  A Alano; S Almashanu; J M Chinsky; P Costeas; M G Blitzer; E A Wulfsberg; T M Cowan
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

9.  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

10.  Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.

Authors:  J B Holton; M G Gillett; R MacFaul; R Young
Journal:  Arch Dis Child       Date:  1981-11       Impact factor: 3.791
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  2 in total

1.  Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.

Authors:  T M Wohlers; J L Fridovich-Keil
Journal:  J Inherit Metab Dis       Date:  2000-11       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
  2 in total

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