Literature DB >> 5848028

An improved assay of erythrocyte and leukocyte galactose-1-phosphate uridyl transferase: stabilization of the enzyme by a thiol protective reagent.

W J Mellman, T A Tedesco.   

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Year:  1965        PMID： 5848028

Source DB:  PubMed          Journal:  J Lab Clin Med        ISSN： 0022-2143


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  8 in total

1.  Blood enzymes in the de Lange syndrome.

Authors:  G F Smith; P Justice; D Y Hsia
Journal:  J Med Genet       Date:  1972-06       Impact factor: 6.318

2.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

Authors:  F A Beemer; K Bartlett; M Duran; H K Ghneim; S K Wadman; L Bruinvis; D Ketting
Journal:  Eur J Pediatr       Date:  1982-07       Impact factor: 3.183

3.  A common mutation associated with the Duarte galactosemia allele.

Authors:  L J Elsas; P P Dembure; S Langley; E M Paulk; L N Hjelm; J Fridovich-Keil
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

4.  Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.

Authors:  Mohamed Jama; Lesa Nelson; Genevieve Pont-Kingdon; Rong Mao; Elaine Lyon
Journal:  J Mol Diagn       Date:  2007-09-20       Impact factor: 5.568

5.  Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.

Authors:  J L Fridovich-Keil; S D Langley; L A Mazur; J C Lennon; P P Dembure; J L Elsas
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

6.  Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

Authors:  L J Elsas; S Langley; E Steele; J Evinger; J L Fridovich-Keil; A Brown; R Singh; P Fernhoff; L N Hjelm; P P Dembure
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

7.  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.  Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia.

Authors:  Emily L Ryan; Brian DuBoff; Mel B Feany; Judith L Fridovich-Keil
Journal:  Dis Model Mech       Date:  2012-06-26       Impact factor: 5.758
  8 in total

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