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Disease on EC 2.7.1.6 - galactokinase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
3-hydroxyacyl-coa dehydrogenase deficiency
Inherited metabolic diseases affecting the carrier.
Adrenoleukodystrophy
Inherited metabolic diseases affecting the carrier.
alpha 1-Antitrypsin Deficiency
Inherited metabolic diseases affecting the carrier.
Bacterial Infections
Recurrent sepsis with deficiencies of C2 and galactokinase.
Biliary Atresia
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
Blindness
The effect of a Pro(28)Thr point mutation on the local structure and stability of human galactokinase enzyme-a theoretical study.
Brain Diseases
Galactokinase deficiency: lessons from the GalNet registry.
Burkitt Lymphoma
Coregulation of the human O6-methylguanine-DNA methyltransferase with two unrelated genes that are closely linked.
Capsule Opacification
Presenile cataract formation and decreased activity of galactosemic enzymes.
Carcinoma, Hepatocellular
The Leloir Pathway of Galactose Metabolism - A Novel Therapeutic Target for Hepatocellular Carcinoma.
Cardiomyopathies
Galactokinase is a novel modifier of calcineurin-induced cardiomyopathy in Drosophila.
Caroli Disease
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
Cataract
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.
An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency.
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
Autosomal recessive juvenile cataract in Hutterites.
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
Cataract and early nystagmus due to galactokinase deficiency.
Cataract and metabolic disease.
Cataracts and galactokinase deficiency.
Cataracts in patients heterozygous for galactokinase deficiency.
Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred.
Clinical features of galactokinase deficiency: a review of the literature.
Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast.
Cloning of canine galactokinase (GALK1) and evaluation as a candidate gene for hereditary cataracts in Labrador retrievers.
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
Disturbed galactose metabolism in elderly and diabetic humans is associated with cataract formation.
Early cataract formation due to galactokinase deficiency: impact of newborn screening.
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
Fine structure of the human galactokinase GALK1 gene.
Functional analysis of disease-causing mutations in human galactokinase.
Galactokinase activity in patients with cataracts.
Galactokinase activity in patients with idiopathic cataracts.
Galactokinase activity in patients with idiopathic presenile and senile cataract.
Galactokinase and cataracts.
Galactokinase deficiency and cataract formation.
Galactokinase deficiency and cataracts.
Galactokinase deficiency as a cause of cataracts.
Galactokinase deficiency in a patient with congenital hyperinsulinism.
Galactokinase Deficiency Induced Cataracts in Indian Infants: Identification of 4 Novel Mutations in GALK Gene.
Galactokinase deficiency: a treatable cause of bilateral cataracts.
Galactokinase deficiency: lessons from the GalNet registry.
Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.
Galactokinase mutants of Chinese hamster somatic cells resistant to 2-deoxygalactose.
Galactose and cataract.
Galactose disorders: an overview.
Galactose intolerance and the risk of cataract.
Galactosemic enzyme levels in presenile cataracts.
Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.
Inherited metabolic diseases affecting the carrier.
Isoelectric-focusing of galactokinase in lens and other tissues.
Macular deposits in galactokinase deficiency.
Molecular characterization of galactokinase deficiency in Japanese patients.
Molecular functions of conserved aspects of the GHMP kinase family.
Mouse galactokinase: isolation, characterization, and location on chromosome 11.
Novel mutations in 13 probands with galactokinase deficiency.
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
Phenotypic expression of galactokinase deficiency in heterozygous and homozygous subjects: in vivo and in vitro studies.
Presenile cataract formation and decreased activity of galactosemic enzymes.
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Red blood cell galactokinase activity and presenile cataracts.
Strain difference in galactokinase level and susceptibility to the teratogenic effect of dietary galactose in mice: I. Teratogenic and embryopathic effect.
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.
The effect of a Pro(28)Thr point mutation on the local structure and stability of human galactokinase enzyme-a theoretical study.
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
[Activity of enzymes of galactose metabolism in so-called congenital cataract (author's transl)]
[Cataract by galactokinase deficiency (author's transl)]
[Cataract due to galactokinase deficiency in a premature infant]
[Galactokinase deficiency, cause of hereditary cataract. Recent publications]
[Identification of inborn errors of galactose metabolism in patients with cataracts]
[Measurement of the erythrocyte galactokinase activity in patients with presenile and senile idiopathic cataract. Preliminary study]
[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency]
[Studies on blood galactokinase of patients with presenile and senile cataracts]
[The blood galactokinase activity in Chinese with reference to congenital cataract]
Cholestasis
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
[Intravenous and oral galactose loading of rats suffering from galactosamine hepatitis and ANIT-cholestasis; comparison of the kinetics in vivo and the galactose metabolism in the liver in vitro (author's transl)]
Cholestasis, Intrahepatic
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
Colorectal Neoplasms
Activity of thymidylate synthetase, thymidine kinase and galactokinase in primary and xenografted human colorectal cancers in relation to their chromosomal patterns.
Congenital Hyperinsulinism
Galactokinase deficiency in a patient with congenital hyperinsulinism.
Cystinuria
Inherited metabolic diseases affecting the carrier.
Deficiency Diseases
[Screening of the Westphalia-Lippe newborns of 1977 for phenylketonuria, histidinemia, homocystinuria and maple syrup disease. Furthermore a pilot study of galactosemia and galactokinase deficiency disease]
Dehydration
Inherited metabolic diseases affecting the carrier.
Diabetes Mellitus
Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper-borne urine and blood samples in newborn screening.
Diphtheria
Iron regulation of the cloned diphtheria toxin promoter in Escherichia coli.
Down Syndrome
[Quantitative enzymic determination of galactokinase activity in the erythrocyte haemolysate of patients with Down's syndrome (author's transl)]
Fanconi Syndrome
Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome.
Two familial cases of high blood galactose of unknown aetiology.
galactokinase deficiency
A fluorescent spot test for the detection of galactokinase deficiency.
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.
A patient with hereditary galactokinase deficiency.
An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency.
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
Biokinetics of galactose in the homozygotes and heterozygotes of both forms of galactosemia.
Borderline galactosemia.
Cataract and early nystagmus due to galactokinase deficiency.
Cataract and metabolic disease.
Cataracts and galactokinase deficiency.
Cataracts in patients heterozygous for galactokinase deficiency.
Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred.
Clinical features of galactokinase deficiency: a review of the literature.
Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast.
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
Cytosolic thymidine kinase activity in cultured human fibroblasts from individuals with galactokinase deficiency.
Detection of heterozygotes for galactokinase deficiency in a human population.
Detection of inborn errors of metabolism. IV. Galactokinase deficiency.
Early cataract formation due to galactokinase deficiency: impact of newborn screening.
Early morning urine galactitol levels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency.
Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia.
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
Fine structure of the human galactokinase GALK1 gene.
Galactokinase deficiency and cataract formation.
Galactokinase deficiency and cataracts.
Galactokinase deficiency and mental retardation.
Galactokinase deficiency as a cause of cataracts.
Galactokinase deficiency in a newborn infant.
Galactokinase deficiency in a patient with congenital hyperinsulinism.
Galactokinase deficiency in twins: clinical and biochemical studies.
Galactokinase Deficiency Induced Cataracts in Indian Infants: Identification of 4 Novel Mutations in GALK Gene.
Galactokinase deficiency presenting as pseudotumor cerebri.
Galactokinase deficiency: a case report.
Galactokinase deficiency: a treatable cause of bilateral cataracts.
Galactokinase deficiency: clinical and biochemical findings in a new kindred.
Galactokinase deficiency: lessons from the GalNet registry.
Galactokinase-deficient mutants of Tetrahymena thermophila: selection and characterization.
Galactose and cataract.
Galactose disorders: an overview.
Galactose metabolism in a patient with hereditary galactokinase deficiency.
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
Hereditary galactokinase deficiency.
Hereditary Galactosemia.
Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.
Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn.
Impaired hexose uptake by diploid skin fibroblasts from galactosaemic patients. Connection with cell growth and amino acid metabolism, and possible bearing on late-onset clinical symptoms.
Inherited metabolic diseases affecting the carrier.
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Letter: Additional findings in galactokinase deficiency.
Letter: Galactokinase deficiency in twins.
Macular deposits in galactokinase deficiency.
Mg2+-ATPase activity in suckling rat brain regions in galactosaemia in vitro. L-Cysteine and glutathione effects.
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.
Molecular characterization of galactokinase deficiency in Japanese patients.
Molecular functions of conserved aspects of the GHMP kinase family.
Mouse galactokinase: isolation, characterization, and location on chromosome 11.
Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency.
Novel mutations in 13 probands with galactokinase deficiency.
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
Phenotypic expression of galactokinase deficiency in heterozygous and homozygous subjects: in vivo and in vitro studies.
Prenatal diagnosis of galactosemia.
Protective effect of L-cysteine and glutathione on the modulated suckling rat brain Na+, K+, -ATPase and Mg2+ -ATPase activities induced by the in vitro galactosaemia.
Rapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper.
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Red blood cell galactokinase activity and presenile cataracts.
Screening for galactosemia: is there a place for it?
Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia.
Some inferences from galactokinase deficiency.
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
Substrate induction of galactokinase in cultured fibroblasts from subjects heterozygous and homozygous for galactokinase deficiency.
Suckling rat brain regional distribution of acetylcholinesterase activity in galactosaemia in vitro.
Suckling rat brain regional distribution of Na+,K+-atpase activity in the in vitro galactosaemia: the effect of L-cysteine and glutathione.
The in vitro effects of galactose and its derivatives on rat brain Mg2+-ATPase activity.
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
The Philadelphia variant of galactokinase: impaired [1-14C]galactose oxidation by intact erythrocytes.
The protective effect of L-cysteine and glutathione on the adult and aged rat brain (Na+,K+)-ATPase and Mg2+-ATPase activities in galactosemia in vitro.
The role of polyols in the pathophysiology of hypergalactosemia.
Thymidine kinase activity in individuals with galactokinase deficiency.
Thymidine-kinase activity of cultured cells from individuals with inherited galactokinase deficiency.
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.
Unusual presentation of galactosemia in a 4-month-old child.
Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency.
Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper-borne urine and blood samples in newborn screening.
[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
[A case of galactosemia caused by galactokinase deficiency]
[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder]
[Cataract by galactokinase deficiency (author's transl)]
[Cataract due to galactokinase deficiency in a premature infant]
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
[Galactokinase deficiency, cause of hereditary cataract. Recent publications]
[Galactokinase deficiency]
[Galactosemia: detection of galactokinase deficiency]
[Gene frequencies of both forms of galactosaemia in the western Hungarian province of Vas (author's transl)]
[Hereditary galactokinase deficiency]
[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency]
[Partial and transitory erythrocyte galactokinase deficiency in a newborn. Biochemical study]
[Results of a nine-year phenylketonuria (PKU) screening (author's transl)]
[Screening of the Westphalia-Lippe newborns of 1977 for phenylketonuria, histidinemia, homocystinuria and maple syrup disease. Furthermore a pilot study of galactosemia and galactokinase deficiency disease]
[The galactokinase deficiency in two human populations: Styria (Austria) and Franconia (Bavaria). A comparative investigation on gen frequency (author's transl)]
Galactosemias
A fluorescent spot test for the detection of galactokinase deficiency.
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.
A patient with hereditary galactokinase deficiency.
An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues.
Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency.
Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
Biokinetics of galactose in the homozygotes and heterozygotes of both forms of galactosemia.
Borderline galactosemia.
Cataract and early nystagmus due to galactokinase deficiency.
Cataract and metabolic disease.
Cataracts and galactokinase deficiency.
Cataracts in patients heterozygous for galactokinase deficiency.
Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred.
Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.
Clinical features of galactokinase deficiency: a review of the literature.
Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast.
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
Comparative modeling and genomics for galactokinase (Gal1p) enzyme.
Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2.
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.
Cytosolic thymidine kinase activity in cultured human fibroblasts from individuals with galactokinase deficiency.
Detection of heterozygotes for galactokinase deficiency in a human population.
Detection of inborn errors of metabolism. IV. Galactokinase deficiency.
Discovery of novel inhibitors of human galactokinase by virtual screening.
Drosophila melanogaster Models of Galactosemia.
Early cataract formation due to galactokinase deficiency: impact of newborn screening.
Early morning urine galactitol levels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency.
Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia.
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
Fine structure of the human galactokinase GALK1 gene.
Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia.
Functional analysis of disease-causing mutations in human galactokinase.
Functional studies of rat galactokinase.
Galactokinase deficiency and cataract formation.
Galactokinase deficiency and cataracts.
Galactokinase deficiency and mental retardation.
Galactokinase deficiency as a cause of cataracts.
Galactokinase deficiency in a newborn infant.
Galactokinase deficiency in a patient with congenital hyperinsulinism.
Galactokinase deficiency in twins: clinical and biochemical studies.
Galactokinase Deficiency Induced Cataracts in Indian Infants: Identification of 4 Novel Mutations in GALK Gene.
Galactokinase deficiency presenting as pseudotumor cerebri.
Galactokinase deficiency: a case report.
Galactokinase deficiency: a treatable cause of bilateral cataracts.
Galactokinase deficiency: clinical and biochemical findings in a new kindred.
Galactokinase deficiency: lessons from the GalNet registry.
Galactokinase-deficient mutants of Tetrahymena thermophila: selection and characterization.
Galactokinase: structure, function and role in type II galactosemia.
Galactose and cataract.
Galactose disorders: an overview.
Galactose metabolism in a patient with hereditary galactokinase deficiency.
Galactose tolerance studies of individuals with reduced galactose pathway activity.
Galactosemia in Thai patient at Phramongkutklao Hospital: a case report.
GALK inhibitors for classic galactosemia.
GALT Deficiency Galactosemia.
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
Hereditary galactokinase deficiency.
Hereditary Galactosemia.
High-throughput screening for human galactokinase inhibitors.
Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: a population survey.
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn.
Impaired hexose uptake by diploid skin fibroblasts from galactosaemic patients. Connection with cell growth and amino acid metabolism, and possible bearing on late-onset clinical symptoms.
In vivo metabolism and UTP-depleting action of 2-deoxy-2-fluoro-D-galactose.
Inherited metabolic diseases affecting the carrier.
Insight into the mechanism of galactokinase: Role of a critical glutamate residue and helix/coil transitions.
Issues on universal screening for galactosemia.
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Letter: Additional findings in galactokinase deficiency.
Letter: Galactokinase deficiency in twins.
Macular deposits in galactokinase deficiency.
Mg2+-ATPase activity in suckling rat brain regions in galactosaemia in vitro. L-Cysteine and glutathione effects.
Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors.
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
Molecular characterization of galactokinase deficiency in Japanese patients.
Molecular functions of conserved aspects of the GHMP kinase family.
Molecular structure of galactokinase.
Molecular structure of human galactokinase: implications for type II galactosemia.
Mouse galactokinase: isolation, characterization, and location on chromosome 11.
Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency.
Novel mutations in 13 probands with galactokinase deficiency.
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
Phenotypic expression of galactokinase deficiency in heterozygous and homozygous subjects: in vivo and in vitro studies.
Prenatal diagnosis of galactosemia.
Problems in the diagnosis of transferase and galactokinase deficient galactosemia.
Protective effect of L-cysteine and glutathione on the modulated suckling rat brain Na+, K+, -ATPase and Mg2+ -ATPase activities induced by the in vitro galactosaemia.
Rapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper.
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Red blood cell galactokinase activity and presenile cataracts.
Screening for galactosemia: is there a place for it?
Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia.
Some inferences from galactokinase deficiency.
Static and dynamic interactions between GALK enzyme and known inhibitors: Guidelines to design new drugs for galactosemic patients.
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
Structure-Based Optimization of Small Molecule Human Galactokinase Inhibitors.
Substrate induction of galactokinase in cultured fibroblasts from subjects heterozygous and homozygous for galactokinase deficiency.
Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.
Suckling rat brain regional distribution of acetylcholinesterase activity in galactosaemia in vitro.
Suckling rat brain regional distribution of Na+,K+-atpase activity in the in vitro galactosaemia: the effect of L-cysteine and glutathione.
Sugar recognition by human galactokinase.
The evolution of a Web resource: The Galactosemia Proteins Database 2.0.
The in vitro effects of galactose and its derivatives on rat brain Mg2+-ATPase activity.
The molecular basis of galactosemia - Past, present and future.
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
The Philadelphia variant of galactokinase.
The Philadelphia variant of galactokinase: impaired [1-14C]galactose oxidation by intact erythrocytes.
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.
The protective effect of L-cysteine and glutathione on the adult and aged rat brain (Na+,K+)-ATPase and Mg2+-ATPase activities in galactosemia in vitro.
The role of polyols in the pathophysiology of hypergalactosemia.
The roles of galactitol, galactose-1-phosphate, and phosphoglucomutase in galactose-induced toxicity in Saccharomyces cerevisiae.
Thymidine kinase activity in individuals with galactokinase deficiency.
Thymidine-kinase activity of cultured cells from individuals with inherited galactokinase deficiency.
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.
Unusual presentation of galactosemia in a 4-month-old child.
Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency.
Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper-borne urine and blood samples in newborn screening.
[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
[A case of galactosemia caused by galactokinase deficiency]
[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder]
[Biochemical mechanisms of the development of hereditary galactosemia in W/SSM strain rats]
[Cataract by galactokinase deficiency (author's transl)]
[Cataract due to galactokinase deficiency in a premature infant]
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
[Effectiveness of the screening programme for galactosemia. New strategy in Poland]
[Galactokinase deficiency, cause of hereditary cataract. Recent publications]
[Galactokinase deficiency]
[Galactosemia: detection of galactokinase deficiency]
[Gene frequencies of both forms of galactosaemia in the western Hungarian province of Vas (author's transl)]
[Hereditary galactokinase deficiency]
[Hereditary galactosemia in rats: biochemical mechanisms of the disease]
[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency]
[Partial and transitory erythrocyte galactokinase deficiency in a newborn. Biochemical study]
[Results of a nine-year phenylketonuria (PKU) screening (author's transl)]
[Screening of the Westphalia-Lippe newborns of 1977 for phenylketonuria, histidinemia, homocystinuria and maple syrup disease. Furthermore a pilot study of galactosemia and galactokinase deficiency disease]
[The galactokinase deficiency in two human populations: Styria (Austria) and Franconia (Bavaria). A comparative investigation on gen frequency (author's transl)]
Genetic Diseases, Inborn
Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues.
Sugar recognition by human galactokinase.
The evolution of a Web resource: The Galactosemia Proteins Database 2.0.
The roles of galactitol, galactose-1-phosphate, and phosphoglucomutase in galactose-induced toxicity in Saccharomyces cerevisiae.
Glycogen Storage Disease
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
Glycogen Storage Disease Type I
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
HELLP Syndrome
Inherited metabolic diseases affecting the carrier.
Hepatitis
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
Herpes Simplex
Expression of herpes simplex virus type 1 DNA polymerase in Saccharomyces cerevisiae and detection of virus-specific enzyme activity in cell-free lysates.
Introduction, rescue and expression of plasmid genes in mammalian cells and Escherichia coli.
Homocystinuria
Inherited metabolic diseases affecting the carrier.
[Screening of the Westphalia-Lippe newborns of 1977 for phenylketonuria, histidinemia, homocystinuria and maple syrup disease. Furthermore a pilot study of galactosemia and galactokinase deficiency disease]
Infections
Autophagy interferes with human cytomegalovirus genome replication, morphogenesis, and progeny release.
Human cytomegalovirus glycoprotein B is required for virus entry and cell-to-cell spread but not for virion attachment, assembly, or egress.
Metabolic Requirements of Escherichia coli in Intracellular Bacterial Communities during Urinary Tract Infection Pathogenesis.
Stimulation in trans of synthesis of E. coli gal operon enzymes by lambdoid phages during low catabolite repression.
The formation of galactokinase in cells of Escherichia coli after infection with the transducing lambda bacteriophage.
Intellectual Disability
Galactokinase deficiency and mental retardation.
l-iditol 2-dehydrogenase deficiency
Cataract and metabolic disease.
Plasma polyol levels in patients with cataract.
Language Development Disorders
Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.
Maple Syrup Urine Disease
[Results of a nine-year phenylketonuria (PKU) screening (author's transl)]
Metabolic Diseases
Cataract and metabolic disease.
Galactokinase promiscuity: a question of flexibility?
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
Metabolism, Inborn Errors
Detection of inborn errors of metabolism. IV. Galactokinase deficiency.
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
Muscle Spasticity
[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
Neoplasms
Activity of thymidylate synthetase, thymidine kinase and galactokinase in primary and xenografted human colorectal cancers in relation to their chromosomal patterns.
Metabolic pathway of 2-deoxy-2-[18F]fluoro-D-talose in mice: trapping in tissue after phosphorylation by galactokinase.
Neurofibromatoses
Galactose metabolism and reproductive history in women with type 1 neurofibromatosis.
Neurofibromatosis 1
Galactose metabolism and reproductive history in women with type 1 neurofibromatosis.
ornithine carbamoyltransferase deficiency
Inherited metabolic diseases affecting the carrier.
Ornithine Carbamoyltransferase Deficiency Disease
Inherited metabolic diseases affecting the carrier.
Papilloma
A highly modular cloning vector for the analysis of eukaryotic genes and gene regulatory elements.
Paraparesis, Spastic
Inherited metabolic diseases affecting the carrier.
Phenylketonurias
[Screening of the Westphalia-Lippe newborns of 1977 for phenylketonuria, histidinemia, homocystinuria and maple syrup disease. Furthermore a pilot study of galactosemia and galactokinase deficiency disease]
Premature Birth
Genetic Manipulation and Virulence Assessment of Fusobacterium nucleatum.
Pseudotumor Cerebri
Clinical features of galactokinase deficiency: a review of the literature.
Galactokinase deficiency presenting as pseudotumor cerebri.
Sarcoma
Differential activation of the mouse beta-globin promoter by enhancers.
The expression of integrated plasmid DNA depends on copy number.
Sepsis
Recurrent sepsis with deficiencies of C2 and galactokinase.
Syphilis, Congenital
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
Triple Negative Breast Neoplasms
Activated kinase screening identifies the IKBKE oncogene as a positive regulator of autophagy.
Tuberculosis
An improved counterselectable marker system for mycobacterial recombination using galK and 2-deoxy-galactose.
Tyrosinemias
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
udp-glucose 4-epimerase deficiency
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
udp-glucose-hexose-1-phosphate uridylyltransferase deficiency
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
utp-hexose-1-phosphate uridylyltransferase deficiency
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
Vaccinia
Transient expression system to measure the efficiency of vaccinia promoter regions.
Vascular Diseases
Inherited metabolic diseases affecting the carrier.
Vesicular Stomatitis
Regulated expression of Sindbis and vesicular stomatitis virus glycoproteins in Saccharomyces cerevisiae.