Deficiency of galactokinase

Known as: Galactokinase Deficiency Diseases, Galactosemia Type 2, Hereditary Galactokinase Deficiencies 
An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol… (More)
National Institutes of Health

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10 relations
Autosomal recessive inheritanceClassical galactosemiaConditions tested for in this newborn screening study:ID:Pt:Bld.dot:NomGalactokinase deficiency:Imp:Pt:Bld.dot:Ord
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Papers overview

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2009
2009
A new positive/negative selection scheme for precise BAC recombineering.
Recombineering technology allows the modification of large DNA constructs without using restriction enzymes, enabling the use of… (More)
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2008
2008
A simplified, robust, and streamlined procedure for the production of C. elegans transgenes via recombineering
The nematode Caenorhabditis elegans has emerged as a powerful system to study biologic questions ranging from development to… (More)
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Highly Cited
2005
Highly Cited
2005
Simple and highly efficient BAC recombineering using galK selection
Recombineering allows DNA cloned in Escherichia coli to be modified via lambda (lambda) Red-mediated homologous recombination… (More)
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Highly Cited
2003
Highly Cited
2003
Gene replacement without selection: regulated suppression of amber mutations in Escherichia coli.
We have developed a method called "gene gorging" to make precise mutations in the Escherichia coli genome at frequencies high… (More)
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2001
2001
Activation of silent gal genes in the lac-gal regulon of Streptococcus thermophilus.
Streptococcus thermophilus strain CNRZ 302 is unable to ferment galactose, neither that generated intracellularly by lactose… (More)
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Highly Cited
1996
Highly Cited
1996
Positive-negative KG cassettes for construction of multi-gene deletions using a single drug marker.
Positive-negative KG cassettes were developed in order to create a number of independent deletion mutations on the bacterial… (More)
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Highly Cited
1989
Highly Cited
1989
A system of shuttle vectors and yeast host strains designed for efficient manipulation of DNA in Saccharomyces cerevisiae.
A series of yeast shuttle vectors and host strains has been created to allow more efficient manipulation of DNA in Saccharomyces… (More)
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1986
1986
Cataracts in patients heterozygous for galactokinase deficiency.
The role of heterozygous galactokinase deficiency in the development of presenile cataracts is presently undetermined… (More)
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Highly Cited
1986
Highly Cited
1986
Promoter-probe vectors for the analysis of divergently arranged promoters.
A series of plasmid-based promoter-probe vectors has been constructed which are particularly useful for the analysis of divergent… (More)
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1967
1967
Hereditary Galactokinase Deficiency, a Newly Recognized Cause of Juvenile Cataracts31
Extract: Two patients with cataracts and a defect in galactose metabolism were studied. A hemolysate of erythrocytes respired… (More)
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