Disease on EC 2.7.1.6 - galactokinase
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3-hydroxyacyl-coa dehydrogenase deficiency
Inherited metabolic diseases affecting the carrier.
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.
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.
Cataract
An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
Cataract
Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency.
Cataract
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
Cataract
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
Cataract
Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred.
Cataract
Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast.
Cataract
Cloning of canine galactokinase (GALK1) and evaluation as a candidate gene for hereditary cataracts in Labrador retrievers.
Cataract
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
Cataract
Disturbed galactose metabolism in elderly and diabetic humans is associated with cataract formation.
Cataract
Early cataract formation due to galactokinase deficiency: impact of newborn screening.
Cataract
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
Cataract
Galactokinase Deficiency Induced Cataracts in Indian Infants: Identification of 4 Novel Mutations in GALK Gene.
Cataract
Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.
Cataract
Galactokinase mutants of Chinese hamster somatic cells resistant to 2-deoxygalactose.
Cataract
Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.
Cataract
Phenotypic expression of galactokinase deficiency in heterozygous and homozygous subjects: in vivo and in vitro studies.
Cataract
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Cataract
Strain difference in galactokinase level and susceptibility to the teratogenic effect of dietary galactose in mice: I. Teratogenic and embryopathic effect.
Cataract
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
Cataract
Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.
Cataract
The effect of a Pro(28)Thr point mutation on the local structure and stability of human galactokinase enzyme-a theoretical study.
Cataract
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
Cataract
[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
Cataract
[Activity of enzymes of galactose metabolism in so-called congenital cataract (author's transl)]
Cataract
[Identification of inborn errors of galactose metabolism in patients with cataracts]
Cataract
[Measurement of the erythrocyte galactokinase activity in patients with presenile and senile idiopathic cataract. Preliminary study]
Cataract
[The blood galactokinase activity in Chinese with reference to congenital cataract]
Cholestasis
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
Cholestasis
[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.
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]
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.
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.
galactokinase deficiency
A fluorescent spot test for the detection of galactokinase deficiency.
galactokinase deficiency
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
galactokinase deficiency
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.
galactokinase deficiency
An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
galactokinase deficiency
Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency.
galactokinase deficiency
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
galactokinase deficiency
Biokinetics of galactose in the homozygotes and heterozygotes of both forms of galactosemia.
galactokinase deficiency
Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred.
galactokinase deficiency
Clinical features of galactokinase deficiency: a review of the literature.
galactokinase deficiency
Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast.
galactokinase deficiency
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
galactokinase deficiency
Cytosolic thymidine kinase activity in cultured human fibroblasts from individuals with galactokinase deficiency.
galactokinase deficiency
Detection of heterozygotes for galactokinase deficiency in a human population.
galactokinase deficiency
Detection of inborn errors of metabolism. IV. Galactokinase deficiency.
galactokinase deficiency
Early cataract formation due to galactokinase deficiency: impact of newborn screening.
galactokinase deficiency
Early morning urine galactitol levels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency.
galactokinase deficiency
Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia.
galactokinase deficiency
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
galactokinase deficiency
Galactokinase deficiency in a patient with congenital hyperinsulinism.
galactokinase deficiency
Galactokinase deficiency in twins: clinical and biochemical studies.
galactokinase deficiency
Galactokinase Deficiency Induced Cataracts in Indian Infants: Identification of 4 Novel Mutations in GALK Gene.
galactokinase deficiency
Galactokinase deficiency: a treatable cause of bilateral cataracts.
galactokinase deficiency
Galactokinase deficiency: clinical and biochemical findings in a new kindred.
galactokinase deficiency
Galactokinase-deficient mutants of Tetrahymena thermophila: selection and characterization.
galactokinase deficiency
Galactose metabolism in a patient with hereditary galactokinase deficiency.
galactokinase deficiency
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
galactokinase deficiency
Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.
galactokinase deficiency
Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn.
galactokinase deficiency
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.
galactokinase deficiency
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
galactokinase deficiency
Mg2+-ATPase activity in suckling rat brain regions in galactosaemia in vitro. L-Cysteine and glutathione effects.
galactokinase deficiency
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.
galactokinase deficiency
Molecular characterization of galactokinase deficiency in Japanese patients.
galactokinase deficiency
Molecular functions of conserved aspects of the GHMP kinase family.
galactokinase deficiency
Mouse galactokinase: isolation, characterization, and location on chromosome 11.
galactokinase deficiency
Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency.
galactokinase deficiency
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
galactokinase deficiency
Phenotypic expression of galactokinase deficiency in heterozygous and homozygous subjects: in vivo and in vitro studies.
galactokinase deficiency
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.
galactokinase deficiency
Rapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper.
galactokinase deficiency
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
galactokinase deficiency
Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
galactokinase deficiency
Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia.
galactokinase deficiency
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
galactokinase deficiency
Substrate induction of galactokinase in cultured fibroblasts from subjects heterozygous and homozygous for galactokinase deficiency.
galactokinase deficiency
Suckling rat brain regional distribution of acetylcholinesterase activity in galactosaemia in vitro.
galactokinase deficiency
Suckling rat brain regional distribution of Na+,K+-atpase activity in the in vitro galactosaemia: the effect of L-cysteine and glutathione.
galactokinase deficiency
The in vitro effects of galactose and its derivatives on rat brain Mg2+-ATPase activity.
galactokinase deficiency
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
galactokinase deficiency
The Philadelphia variant of galactokinase: impaired [1-14C]galactose oxidation by intact erythrocytes.
galactokinase deficiency
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.
galactokinase deficiency
Thymidine kinase activity in individuals with galactokinase deficiency.
galactokinase deficiency
Thymidine-kinase activity of cultured cells from individuals with inherited galactokinase deficiency.
galactokinase deficiency
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.
galactokinase deficiency
Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency.
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.
galactokinase deficiency
[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
galactokinase deficiency
[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder]
galactokinase deficiency
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
galactokinase deficiency
[Galactokinase deficiency, cause of hereditary cataract. Recent publications]
galactokinase deficiency
[Gene frequencies of both forms of galactosaemia in the western Hungarian province of Vas (author's transl)]
galactokinase deficiency
[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency]
galactokinase deficiency
[Partial and transitory erythrocyte galactokinase deficiency in a newborn. Biochemical study]
galactokinase deficiency
[Results of a nine-year phenylketonuria (PKU) screening (author's transl)]
galactokinase deficiency
[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]
galactokinase deficiency
[The galactokinase deficiency in two human populations: Styria (Austria) and Franconia (Bavaria). A comparative investigation on gen frequency (author's transl)]
Galactosemias
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
Galactosemias
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.
Galactosemias
An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
Galactosemias
Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues.
Galactosemias
Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency.
Galactosemias
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
Galactosemias
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
Galactosemias
Biokinetics of galactose in the homozygotes and heterozygotes of both forms of galactosemia.
Galactosemias
Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred.
Galactosemias
Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.
Galactosemias
Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast.
Galactosemias
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
Galactosemias
Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2.
Galactosemias
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.
Galactosemias
Cytosolic thymidine kinase activity in cultured human fibroblasts from individuals with galactokinase deficiency.
Galactosemias
Detection of heterozygotes for galactokinase deficiency in a human population.
Galactosemias
Early cataract formation due to galactokinase deficiency: impact of newborn screening.
Galactosemias
Early morning urine galactitol levels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency.
Galactosemias
Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Galactosemias
Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia.
Galactosemias
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
Galactosemias
Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia.
Galactosemias
Galactokinase Deficiency Induced Cataracts in Indian Infants: Identification of 4 Novel Mutations in GALK Gene.
Galactosemias
Galactokinase-deficient mutants of Tetrahymena thermophila: selection and characterization.
Galactosemias
Galactose tolerance studies of individuals with reduced galactose pathway activity.
Galactosemias
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
Galactosemias
Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: a population survey.
Galactosemias
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
Galactosemias
Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn.
Galactosemias
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.
Galactosemias
Insight into the mechanism of galactokinase: Role of a critical glutamate residue and helix/coil transitions.
Galactosemias
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Galactosemias
Mg2+-ATPase activity in suckling rat brain regions in galactosaemia in vitro. L-Cysteine and glutathione effects.
Galactosemias
Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors.
Galactosemias
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.
Galactosemias
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
Galactosemias
Molecular structure of human galactokinase: implications for type II galactosemia.
Galactosemias
Mouse galactokinase: isolation, characterization, and location on chromosome 11.
Galactosemias
Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency.
Galactosemias
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
Galactosemias
Phenotypic expression of galactokinase deficiency in heterozygous and homozygous subjects: in vivo and in vitro studies.
Galactosemias
Problems in the diagnosis of transferase and galactokinase deficient galactosemia.
Galactosemias
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.
Galactosemias
Rapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper.
Galactosemias
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Galactosemias
Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
Galactosemias
Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia.
Galactosemias
Static and dynamic interactions between GALK enzyme and known inhibitors: Guidelines to design new drugs for galactosemic patients.
Galactosemias
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
Galactosemias
Structure-Based Optimization of Small Molecule Human Galactokinase Inhibitors.
Galactosemias
Substrate induction of galactokinase in cultured fibroblasts from subjects heterozygous and homozygous for galactokinase deficiency.
Galactosemias
Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.
Galactosemias
Suckling rat brain regional distribution of acetylcholinesterase activity in galactosaemia in vitro.
Galactosemias
Suckling rat brain regional distribution of Na+,K+-atpase activity in the in vitro galactosaemia: the effect of L-cysteine and glutathione.
Galactosemias
The in vitro effects of galactose and its derivatives on rat brain Mg2+-ATPase activity.
Galactosemias
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
Galactosemias
The Philadelphia variant of galactokinase: impaired [1-14C]galactose oxidation by intact erythrocytes.
Galactosemias
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.
Galactosemias
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.
Galactosemias
The roles of galactitol, galactose-1-phosphate, and phosphoglucomutase in galactose-induced toxicity in Saccharomyces cerevisiae.
Galactosemias
Thymidine-kinase activity of cultured cells from individuals with inherited galactokinase deficiency.
Galactosemias
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.
Galactosemias
Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency.
Galactosemias
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.
Galactosemias
[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
Galactosemias
[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder]
Galactosemias
[Biochemical mechanisms of the development of hereditary galactosemia in W/SSM strain rats]
Galactosemias
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
Galactosemias
[Effectiveness of the screening programme for galactosemia. New strategy in Poland]
Galactosemias
[Gene frequencies of both forms of galactosaemia in the western Hungarian province of Vas (author's transl)]
Galactosemias
[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency]
Galactosemias
[Partial and transitory erythrocyte galactokinase deficiency in a newborn. Biochemical study]
Galactosemias
[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]
Galactosemias
[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.
Genetic Diseases, Inborn
The evolution of a Web resource: The Galactosemia Proteins Database 2.0.
Genetic Diseases, Inborn
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]
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.
Herpes Simplex
Introduction, rescue and expression of plasmid genes in mammalian cells and Escherichia coli.
Homocystinuria
[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.
Infections
Human cytomegalovirus glycoprotein B is required for virus entry and cell-to-cell spread but not for virion attachment, assembly, or egress.
Infections
Metabolic Requirements of Escherichia coli in Intracellular Bacterial Communities during Urinary Tract Infection Pathogenesis.
Infections
Stimulation in trans of synthesis of E. coli gal operon enzymes by lambdoid phages during low catabolite repression.
Infections
The formation of galactokinase in cells of Escherichia coli after infection with the transducing lambda bacteriophage.
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
[Citrin deficiency is an important etiology for cholestatic liver disease in children]
Metabolism, Inborn Errors
Detection of inborn errors of metabolism. IV. Galactokinase deficiency.
Metabolism, Inborn Errors
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.
Neoplasms
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.
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]
Pseudotumor Cerebri
Clinical features of galactokinase deficiency: a review of the literature.
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).
udp-glucose 4-epimerase deficiency
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.
Vesicular Stomatitis
Regulated expression of Sindbis and vesicular stomatitis virus glycoproteins in Saccharomyces cerevisiae.
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