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Deficiency of galactokinase
Known as:
Galactokinase Deficiency Diseases
, Galactosemia Type 2
, Hereditary Galactokinase Deficiencies
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An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol…
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National Institutes of Health
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Related topics
Related topics
10 relations
Autosomal recessive inheritance
Classical galactosemia
Conditions tested for in this newborn screening study:ID:Pt:Bld.dot:Nom
Galactokinase deficiency:Imp:Pt:Bld.dot:Ord
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
1999
1999
Molecular characterization of galactokinase deficiency in Japanese patients
M. Asada
,
Y. Okano
,
T. Imamura
,
I. Suyama
,
Y. Hase
,
G. Isshiki
Journal of Human Genetics
1999
Corpus ID: 22228867
AbstractGalactokinase (GALK) deficiency is an autosomal recessive disorder, which causes cataract formation in children not…
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Review
1998
Review
1998
The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.
K. Petry
,
J. Reichardt
Trends in Genetics
1998
Corpus ID: 19117669
Highly Cited
1991
Highly Cited
1991
Sequences mediating the translation of mouse S16 ribosomal protein mRNA during myoblast differentiation and in vitro and possible control points for the in vitro translation.
M. L. Hammond
,
W. Merrick
,
L. Bowman
Genes & Development
1991
Corpus ID: 34168737
The translation of ribosomal protein (r-protein) mRNAs is generally inefficient and regulated during the differentiation of mouse…
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1986
1986
Cataracts in patients heterozygous for galactokinase deficiency.
D. Stambolian
,
V. Scarpino-Myers
,
R. C. Eagle
,
Hodes Bl
,
Harry Harris
Investigative Ophthalmology and Visual Science
1986
Corpus ID: 23260225
The role of heterozygous galactokinase deficiency in the development of presenile cataracts is presently undetermined…
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1986
1986
A 3.6‐kbp segment from the vir region of Ti plasmids contains genes responsible for border sequence‐directed production of T region circles in E. coli
J. Alt-Moerbe
,
B. Rak
,
J. Schröder
EMBO Journal
1986
Corpus ID: 36209795
The vir region of Ti plasmids is responsible for the transfer of the T region from Agrobacteria to plant cells; previous…
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Highly Cited
1984
Highly Cited
1984
Affecting gene expression by altering the length and sequence of the 5' leader.
H. Johansen
,
D. Schümperli
,
M. Rosenberg
Proceedings of the National Academy of Sciences…
1984
Corpus ID: 11792866
We have utilized a recombinant vector system designed to study gene control elements by fusing them to the Escherichia coli…
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Highly Cited
1983
Highly Cited
1983
The expression in yeast of the Escherichia coli galK gene on CYC1::galK fusion plasmids.
Brian C. Rymond
,
R. Zitomer
,
D. Schümperli
,
M. Rosenberg
Gene
1983
Corpus ID: 23440508
1981
1981
Antitermination and termination functions of the cloned nutL, N, and tL1 modules of coliphage lambda.
D. Drahos
,
W. Szybalski
Gene
1981
Corpus ID: 20014464
Review
1973
Review
1973
Galactose metabolism and its regulation.
Robert M. Cohn
,
Robert M. Cohn
,
Stanton Segal
,
Stanton Segal
Metabolism: Clinical and Experimental
1973
Corpus ID: 43722571
Highly Cited
1968
Highly Cited
1968
Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn.
O. Thalhammer
,
R. Gitzelmann
,
M. Pantlitschko
Pediatrics
1968
Corpus ID: 42383242
The detection in a screening program of a newborn infant with galactokinase deficiency is reported. Hypergalactosemia…
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