Literature DB >> 5034870

Galactokinase deficiency: clinical and biochemical findings in a new kindred.

W R Pickering, R R Howell.   

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Year:  1972        PMID： 5034870     DOI： 10.1016/s0022-3476(72)80373-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  9 in total

1.  Characteristics of galactokinase and galactose-1-phosphate uridyltransferase in cultivated fibroblasts and amniotic fluid cells.

Authors:  Y Shin-Buehring; H Leitner; H Henseleit; A Wirtz; B Haas; J Schaub
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

2.  Coagulation defect of congenital tyrosinaemia.

Authors:  S Ozsoylu
Journal:  Arch Dis Child       Date:  1985-02       Impact factor: 3.791

3.  Galactose tolerance studies of individuals with reduced galactose pathway activity.

Authors:  W J Mellman; B E Rawnsley; C W Nichols; B Needelman; M T Mennuti; J Malone; T A Tedesco
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

4.  CO2 production from galactose in galactose-1-phosphate uridyl transferase-deficient Escherichia coli.

Authors:  R J LaPolla; M R Geier; T B Friedman; C R Merril
Journal:  J Bacteriol       Date:  1975-10       Impact factor: 3.490

5.  Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: a population survey.

Authors:  T A Tedesco; K L Miller; B E Rawnsley; M T Mennuti; R S Spielman; W J Mellman
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

Review 6.  Clinical features of galactokinase deficiency: a review of the literature.

Authors:  A M Bosch; H D Bakker; A H van Gennip; J V van Kempen; R J A Wanders; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  2002-12       Impact factor: 4.982

7.  The Philadelphia variant of galactokinase.

Authors:  T A Tedesco; K L Miller; B E Rawnsley; M C Adams; H B Markus; K G Orkwiszewski; W J Mellman
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

8.  Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency.

Authors:  C Stephenson; M Brivet; M Gautier; J Deschatrette; R Gitzelmann; P Karran
Journal:  Biochem Genet       Date:  1991-04       Impact factor: 1.890

9.  Thymidine-kinase activity of cultured cells from individuals with inherited galactokinase deficiency.

Authors:  R C Schoen; S H Cox; R P Wagner
Journal:  Am J Hum Genet       Date:  1984-07       Impact factor: 11.025
  9 in total

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