Literature DB >> 6290108

Semi-micro techniques for the genotyping of galactokinase and galactose-1-phosphate uridyltransferase.

J E Lee, W G Ng.   

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Year:  1982        PMID: 6290108     DOI: 10.1016/0009-8981(82)90429-6

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN: 0009-8981            Impact factor:   3.786


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  7 in total

1.  Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.

Authors:  Y K Xu; W G Ng
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

2.  Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency.

Authors:  Y K Xu; W G Ng; F R Kaufman; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

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.  Screening of newborn infants for galactosemia in British Columbia.

Authors:  L T Kirby; M G Norman; D A Applegarth; D F Hardwick
Journal:  Can Med Assoc J       Date:  1985-05-01       Impact factor: 8.262

5.  On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

Authors:  H C Lin; L T Kirby; W G Ng; J K Reichardt
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

6.  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

7.  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 in total

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