Literature DB >> 5590140

Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.

R Gitzelmann, J R Poley, A Prader.   

Abstract

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Year:  1967        PMID: 5590140

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


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  8 in total

1.  [Investigations on the polymorphism of galactose-1-phosphate-uridyl-transferase by means of agarose gel electrophoresis].

Authors:  P Kühnl; L Nowicki; W Spielmann
Journal:  Humangenetik       Date:  1974

2.  [A family with galactosemia and "Duarte variant"].

Authors:  G Haschemian; F Menne
Journal:  Humangenetik       Date:  1972

3.  A Duarte variant with clinical signs.

Authors:  S Kelly; L Desjardins; S A Khera
Journal:  J Med Genet       Date:  1972-03       Impact factor: 6.318

4.  [Relation between galactose and the crystalline lens].

Authors:  J Nordmann
Journal:  Doc Ophthalmol       Date:  1969       Impact factor: 2.379

5.  [Polyphosphate nucleosides of crystallin. Their development during differentiation, aging and galactose overload].

Authors:  J Klethi
Journal:  Doc Ophthalmol       Date:  1970-12-21       Impact factor: 2.379

6.  Galactose intolerance and the risk of cataract.

Authors:  A F Winder; P Fells; R B Jones; R D Kissun; I S Menzies; J N Mount
Journal:  Br J Ophthalmol       Date:  1982-07       Impact factor: 4.638

Review 7.  Partial deficiency of galactose-1-phosphate uridyltransferase.

Authors:  R Gitzelmann; N U Bosshard
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

8.  Galactose-1-phosphate uridyltransferase and galactokinase activity in cultured human diploid fibroblasts and peripheral blood leukocytes. I. Analysis of transferase genotypes by the ratio of the activities of the two enzymes.

Authors:  T A Tedesco; W J Mellman
Journal:  J Clin Invest       Date:  1969-12       Impact factor: 14.808

  8 in total

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