Disease on EC 2.7.7.10 - UTP-hexose-1-phosphate uridylyltransferase
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Adrenoleukodystrophy
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Biotinidase Deficiency
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Brain Diseases
In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy.
Bronchopulmonary Dysplasia
Newborn metabolic vulnerability profile identifies preterm infants at risk for mortality and morbidity.
Capsule Opacification
Presenile cataract formation and decreased activity of galactosemic enzymes.
Carcinoma, Ovarian Epithelial
Duarte galactose-1-phosphate uridyl transferase genotypes are not associated with ovarian cancer risk.
Carcinoma, Ovarian Epithelial
Galactose consumption and metabolism in relation to the risk of ovarian cancer.
Cataract
A case of cataract formation during the lactating period associated with galactose-1-phosphate uridyl transferase deficiency.
Cataract
Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations.
Cataract
Cataract formation in diabetic patients and galactose-1-phosphate uridyltransferase deficiency.
Cataract
Cataracts and depressed galactose-1-phosphate uridyl transferase activity in a cus cus (Phalanger maculatus).
Cataract
Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.
Cataract
Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.
Cataract
Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia.
Cataract
Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.
Cataract
Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.
Cataract
Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.
Cataract
Strain difference in galactokinase level and susceptibility to the teratogenic effect of dietary galactose in mice: I. Teratogenic and embryopathic effect.
Cataract
Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation.
Cataract
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
Cataract
[Activity of enzymes of galactose metabolism in so-called congenital cataract (author's transl)]
Cataract
[Study of galactose-1-phosphate uridyltransferase activity in erythrocytes of patients with presenile cataract]
Cholestasis
Prolactin Signaling Pathways Determining Its Direct Effects on Kidneys in the Cholestasis of Pregnancy Model.
Confusion
Separation and characterization of two UTP-utilizing hexose phosphate uridylyltransferases from Entamoeba histolytica.
Diabetes Mellitus, Type 1
Association studies between Type 1 (insulin-dependent) diabetes and 27 genetic markers: lack of association between Type 1 diabetes and Kidd blood group.
Ductus Arteriosus, Patent
Newborn metabolic vulnerability profile identifies preterm infants at risk for mortality and morbidity.
Endometriosis
Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate uridyl transferase in a UK population.
Endometriosis
Endometriosis associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT).
Endometriosis
Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis.
Endometriosis
No association of endometriosis with galactose-1-phosphate uridyl transferase mutations in a Chinese population.
Enterocolitis, Necrotizing
Newborn metabolic vulnerability profile identifies preterm infants at risk for mortality and morbidity.
galactokinase deficiency
Clinical features of galactokinase deficiency: a review of the literature.
galactokinase deficiency
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
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
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.
Galactosemias
A Case of Classical Galactosemia: Identification and Characterization of 3 Distinct Mutations in Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in a Single Family.
Galactosemias
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
Galactosemias
A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.
Galactosemias
A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.
Galactosemias
A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate.
Galactosemias
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.
Galactosemias
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family.
Galactosemias
Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency.
Galactosemias
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
Galactosemias
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.
Galactosemias
An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia.
Galactosemias
An interference-free two-step enzyme assay with UPLC-tandem mass spectrometric product measurement for the clinical diagnosis of uridine diphosphate galactose-4-epimerase deficiency.
Galactosemias
Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.
Galactosemias
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
Galactosemias
Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.
Galactosemias
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
Galactosemias
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
Galactosemias
Black children deficient in galactose 1-phosphate uridyltransferase: correlation of activity and immunoreactive protein in erythrocytes and leukocytes.
Galactosemias
Cataract formation in diabetic patients and galactose-1-phosphate uridyltransferase deficiency.
Galactosemias
Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes.
Galactosemias
Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system.
Galactosemias
Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.
Galactosemias
Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.
Galactosemias
Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model.
Galactosemias
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Galactosemias
Classical Galactosemia: Insight into Molecular Pathomechanisms by Differential Membrane Proteomics of Fibroblasts under Galactose Stress.
Galactosemias
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
Galactosemias
Comparison of galactose-1-phosphate uridyl transferase in fetal and adult tissues.
Galactosemias
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.
Galactosemias
Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.
Galactosemias
Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia.
Galactosemias
Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.
Galactosemias
Crystal structures of HINT demonstrate that histidine triad proteins are GalT-related nucleotide-binding proteins.
Galactosemias
Determination of [(13)C]galactose enrichment in human plasma by gas chromatography/positive chemical ionization tandem mass spectrometry.
Galactosemias
Differential Proteomics of Urinary Exovesicles from Classical Galactosemic Patients Reveals Subclinical Kidney Insufficiency.
Galactosemias
Distribution of Q188R and N314D mutations in the Hungarian galactosemic population.
Galactosemias
Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia.
Galactosemias
Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia.
Galactosemias
Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Galactosemias
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study.
Galactosemias
Electrophoretic abnormality of galactose-1-phosphate uridyl transferase in galactosemia.
Galactosemias
Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula.
Galactosemias
Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
Galactosemias
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia.
Galactosemias
Erythrocyte Galactose-1-phosphate measurement by GC-MS in the monitoring of classical galactosemia.
Galactosemias
Estimation of amniotic cell galactose-1-phosphate uridyltransferase for prenatal diagnosis of galactosemia in Taiwan.
Galactosemias
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.
Galactosemias
Expression of galactose-1-phosphate uridyltransferase in the anterior pituitary of rat during the estrous cycle.
Galactosemias
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency.
Galactosemias
Fluorinated Galactoses Inhibit Galactose-1-Phosphate Uridyltransferase and Metabolically Induce Galactosemia-like Phenotypes in HEK-293 Cells.
Galactosemias
Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments.
Galactosemias
Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia.
Galactosemias
Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.
Galactosemias
Frequency Distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT Variant Alleles in an Indian Galactosemia Population.
Galactosemias
Functional analysis of GALT variants found in classic galactosemia patients using a novel cell-free translation method.
Galactosemias
Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.
Galactosemias
Functional analysis of the mouse galactose-1-phosphate uridyl transferase (GALT)promoter.
Galactosemias
Functional consequence of substitutions at residue 171 in human galactose-1-phosphate uridylyltransferase.
Galactosemias
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
Galactosemias
Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia.
Galactosemias
Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency.
Galactosemias
Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet.
Galactosemias
Galactose-1-phosphate is a regulator of inositol monophosphatase: a fact or a fiction?
Galactosemias
Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies.
Galactosemias
Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes. Studies of normal and mutant enzymes.
Galactosemias
Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples.
Galactosemias
Galactose-1-phosphate uridyltransferase activities in erythrocytes from a patient with galactosemia: discrepancy between two methods.
Galactosemias
Galactose-1-Phosphate Uridyltransferase deficiency: a literature review of the putative mechanisms of short and long-term complications and allelic variants.
Galactosemias
Galactosemia as a result of galactose-1-phosphate uridyltransferase deficiency.
Galactosemias
Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene.
Galactosemias
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
Galactosemias
Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.
Galactosemias
Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.
Galactosemias
GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants.
Galactosemias
GALT protein database: querying structural and functional features of GALT enzyme.
Galactosemias
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
Galactosemias
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.
Galactosemias
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
Galactosemias
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia.
Galactosemias
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
Galactosemias
Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.
Galactosemias
Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.
Galactosemias
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.
Galactosemias
Impaired fertility and motor function in a zebrafish model for classic galactosemia.
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
In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy.
Galactosemias
In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency.
Galactosemias
Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model.
Galactosemias
Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model.
Galactosemias
Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
Galactosemias
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Galactosemias
Living situation, occupation and health-related quality of life in adult patients with classic galactosemia.
Galactosemias
Living with classical galactosemia: health-related quality of life consequences.
Galactosemias
Loss of transferase enzyme activity of transfused erythrocytes in galactosemia.
Galactosemias
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
Galactosemias
Modulation of rat tissue galactose-1-phosphate uridyltransferase by uridine and uridine triphosphate.
Galactosemias
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele.
Galactosemias
Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.
Galactosemias
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.
Galactosemias
Molecular basis and clinical presentation of classic galactosemia in a Croatian population.
Galactosemias
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
Galactosemias
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
Galactosemias
Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.
Galactosemias
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
Galactosemias
Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
Galactosemias
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
Galactosemias
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
Galactosemias
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Galactosemias
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
Galactosemias
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
Galactosemias
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
Galactosemias
Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.
Galactosemias
Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach.
Galactosemias
Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.
Galactosemias
Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.
Galactosemias
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Galactosemias
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
Galactosemias
Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model.
Galactosemias
Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.
Galactosemias
Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt.
Galactosemias
Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion.
Galactosemias
Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry.
Galactosemias
Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia.
Galactosemias
Prenatal diagnosis of galactosemia and properties of galactose-1-phosphate uridyltransferase in erythrocytes of galactosemic variants as well as in human fetal and adult organs.
Galactosemias
Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry.
Galactosemias
Radiochemical assay of minute quantities of galactose-1-phosphate uridyltransferase activity in erythrocytes and leukocytes of galactosemia patients.
Galactosemias
Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma.
Galactosemias
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Galactosemias
Regulatory effects of galactose on galactose-1-phosphate uridyltransferase activity on human hepatoblastoma HepG2 cells.
Galactosemias
Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
Galactosemias
Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
Galactosemias
Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air.
Galactosemias
Serum markers of bone turnover in children and adolescents with classic galactosemia.
Galactosemias
Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.
Galactosemias
Structural and molecular biology of type I galactosemia: disease-associated mutations.
Galactosemias
Structure-activity analysis and cell-based optimization of human galactokinase inhibitors.
Galactosemias
Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany.
Galactosemias
Study of a family with Los Angeles, Duarte, and classical galactosemia variants of galactose-1-phosphate uridyl transferase.
Galactosemias
The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase.
Galactosemias
The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency.
Galactosemias
The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.
Galactosemias
The natural history of classic galactosemia: lessons from the GalNet registry.
Galactosemias
The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.
Galactosemias
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency.
Galactosemias
The roles of galactitol, galactose-1-phosphate, and phosphoglucomutase in galactose-induced toxicity in Saccharomyces cerevisiae.
Galactosemias
The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.
Galactosemias
The Unfolded Protein Response Has a Protective Role in Yeast Models of Classic Galactosemia.
Galactosemias
The yeast, Saccharomyces cerevisiae, as a model system for the study of human genetic disease.
Galactosemias
Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.
Galactosemias
Transient developmental delays in infants with Duarte-2 variant galactosemia.
Galactosemias
Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia.
Galactosemias
UDP-galactose pyrophosphorylase in mice with galactose-1-phosphate uridyltransferase deficiency.
Galactosemias
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.
Galactosemias
Unstable galactose-1-phosphate uridyl transferase: a new variant of galactosemia.
Galactosemias
Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy.
Galactosemias
Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.
Galactosemias
Using a Personal Glucose Meter and Alkaline Phosphatase for Point-of-Care Quantification of Galactose-1-Phosphate Uridyltransferase in Clinical Galactosemia Diagnosis.
Galactosemias
[Determination of erythrocyte galactose-1-phosphate uridyltransferase in experimental galactosemia and variations induced by orotic acid.]
Galactosemias
[Determination of galactose-1-phosphate uridyl transferase in capillary blood in galactosemia. Use in family examinations]
Galactosemias
[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]
Galactosemias
[Induction of galactose-1-phosphate uridylyltransferase in rat liver by galactose and experimental galactosemia]
Galactosemias
[Late diagnosis of classical galactosemia. An adult with special biochemistry]
Galactosemias
[Premature ovarian failure in galactosaemia: pathophysiology and clinical management]
Galactosemias
[Screening for galactose-1-phosphate uridyltransferase deficiency (classic galactosemia) in newborns]
Genetic Diseases, Inborn
Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.
Genetic Diseases, Inborn
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
Genetic Diseases, Inborn
Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.
Genetic Diseases, Inborn
Expression of galactose-1-phosphate uridyltransferase in the anterior pituitary of rat during the estrous cycle.
Genetic Diseases, Inborn
Frequency Distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT Variant Alleles in an Indian Galactosemia Population.
Genetic Diseases, Inborn
GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants.
Genetic Diseases, Inborn
GALT protein database: querying structural and functional features of GALT enzyme.
Genetic Diseases, Inborn
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
Genetic Diseases, Inborn
Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots.
Genetic Diseases, Inborn
Impaired fertility and motor function in a zebrafish model for classic galactosemia.
Genetic Diseases, Inborn
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
Genetic Diseases, Inborn
The roles of galactitol, galactose-1-phosphate, and phosphoglucomutase in galactose-induced toxicity in Saccharomyces cerevisiae.
Genetic Diseases, Inborn
The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.
glucose-6-phosphate dehydrogenase (nadp+) deficiency
Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia.
Glucosephosphate Dehydrogenase Deficiency
Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia.
Hepatoblastoma
Regulatory effects of galactose on galactose-1-phosphate uridyltransferase activity on human hepatoblastoma HepG2 cells.
Hepatomegaly
Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.
Hepatomegaly
Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia.
Hepatomegaly
Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.
Infertility, Female
Q188R, K285N, and N314D mutation-associated alleles in the galactose-1-phosphate uridyltransferase gene and female infertility.
Intellectual Disability
Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.
Jaundice, Neonatal
'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ.
Lethargy
Classical galactosaemia in Chinese: A case report and review of disease incidence.
Leukemia, Lymphocytic, Chronic, B-Cell
Galactose-1-phosphate uridylyltransferase activity in chronic lymphocytic leukemia.
Leukomalacia, Periventricular
Newborn metabolic vulnerability profile identifies preterm infants at risk for mortality and morbidity.
Liver Cirrhosis
ERYTHROCYTIC GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE LEVELS IN HEPATIC CIRRHOSIS.
Liver Diseases
alpha1-Antitrypsin deficiency associated with persistent cutaneous vasculitis. Occurrence in a child with liver disease.
Liver Failure
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Metabolic Diseases
Classical Galactosemia: Insight into Molecular Pathomechanisms by Differential Membrane Proteomics of Fibroblasts under Galactose Stress.
Metabolic Diseases
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia.
Metabolic Diseases
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.
Metabolic Diseases
Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma.
Metabolic Diseases
Serum markers of bone turnover in children and adolescents with classic galactosemia.
Metabolism, Inborn Errors
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
Muscle Hypotonia
Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.
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.
Ovarian Neoplasms
Association of galactose-1-phosphate uridyltransferase activity and N314D genotype with the risk of ovarian cancer.
Ovarian Neoplasms
Characteristics of women with a family history of ovarian cancer. I. Galactose consumption and metabolism.
Ovarian Neoplasms
Duarte galactose-1-phosphate uridyl transferase genotypes are not associated with ovarian cancer risk.
Ovarian Neoplasms
Galactose-1-phosphate uridyl transferase (GALT) genotype and phenotype, galactose consumption, and the risk of borderline and invasive ovarian cancer (United States).
Ovarian Neoplasms
Milk/dairy products consumption, galactose metabolism and ovarian cancer: meta-analysis of epidemiological studies.
Ovarian Neoplasms
Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis.
Ovarian Neoplasms
The N314D polymorphism of galactose-1-phosphate uridyl transferase does not modify the risk of ovarian cancer.
Primary Ovarian Insufficiency
Galactose-1-phosphate uridyl transferase gene mutations in women with premature ovarian failure.
Primary Ovarian Insufficiency
Risk factors for premature ovarian failure in females with galactosemia.
Primary Ovarian Insufficiency
Screening of the galactose-1-phosphate uridyltransferase gene in Indian women with ovarian failure.
Pseudotumor Cerebri
Clinical features of galactokinase deficiency: a review of the literature.
Respiratory Distress Syndrome
Newborn metabolic vulnerability profile identifies preterm infants at risk for mortality and morbidity.
Retinopathy of Prematurity
Newborn metabolic vulnerability profile identifies preterm infants at risk for mortality and morbidity.
Sepsis
Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.
Sepsis
Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia.
Sepsis
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Sepsis
Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.
Sepsis
Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.
Sepsis
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
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
A pulsed amperometric detection method of galactose 1-phosphate for galactosemia diagnosis.
utp-hexose-1-phosphate uridylyltransferase deficiency
A case of cataract formation during the lactating period associated with galactose-1-phosphate uridyl transferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
A mouse model of galactose-1-phosphate uridyl transferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.
utp-hexose-1-phosphate uridylyltransferase deficiency
A pulsed amperometric detection method of galactose 1-phosphate for galactosemia diagnosis.
utp-hexose-1-phosphate uridylyltransferase deficiency
Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
Cataract formation in diabetic patients and galactose-1-phosphate uridyltransferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia.
utp-hexose-1-phosphate uridylyltransferase deficiency
Effect of uridine on hepatic galactose-1-phosphate uridyltransferase.
utp-hexose-1-phosphate uridylyltransferase deficiency
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study.
utp-hexose-1-phosphate uridylyltransferase deficiency
Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia.
utp-hexose-1-phosphate uridylyltransferase deficiency
Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet.
utp-hexose-1-phosphate uridylyltransferase deficiency
Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies.
utp-hexose-1-phosphate uridylyltransferase deficiency
Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients.
utp-hexose-1-phosphate uridylyltransferase deficiency
Galactose-1-Phosphate Uridyltransferase deficiency: a literature review of the putative mechanisms of short and long-term complications and allelic variants.
utp-hexose-1-phosphate uridylyltransferase deficiency
Galactosemia as a result of galactose-1-phosphate uridyltransferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
utp-hexose-1-phosphate uridylyltransferase deficiency
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.
utp-hexose-1-phosphate uridylyltransferase deficiency
In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy.
utp-hexose-1-phosphate uridylyltransferase deficiency
In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
utp-hexose-1-phosphate uridylyltransferase deficiency
Late onset of distinct neurologic syndromes in galactosemic siblings.
utp-hexose-1-phosphate uridylyltransferase deficiency
Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.
utp-hexose-1-phosphate uridylyltransferase deficiency
Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.
utp-hexose-1-phosphate uridylyltransferase deficiency
Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry.
utp-hexose-1-phosphate uridylyltransferase deficiency
Pregnancy after oocyte donation to a woman with ovarian failure and classical galactosemia.
utp-hexose-1-phosphate uridylyltransferase deficiency
Regulation of galactose metabolism: implications for therapy.
utp-hexose-1-phosphate uridylyltransferase deficiency
Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany.
utp-hexose-1-phosphate uridylyltransferase deficiency
The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
The genetics of galactose-1-phosphate uridyl transferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia.
utp-hexose-1-phosphate uridylyltransferase deficiency
UDP-galactose pyrophosphorylase in mice with galactose-1-phosphate uridyltransferase deficiency.
utp-hexose-1-phosphate uridylyltransferase deficiency
Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy.
utp-hexose-1-phosphate uridylyltransferase deficiency
Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.
utp-hexose-1-phosphate uridylyltransferase deficiency
[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]
utp-hexose-1-phosphate uridylyltransferase deficiency
[Galactose-1-phosphate uridyltransferase deficiency]
utp-hexose-1-phosphate uridylyltransferase deficiency
[Galactosemia: a problem still unsolved]
utp-hexose-1-phosphate uridylyltransferase deficiency
[Premature ovarian failure in galactosaemia: pathophysiology and clinical management]
utp-hexose-1-phosphate uridylyltransferase deficiency
[Screening for galactose-1-phosphate uridyltransferase deficiency (classic galactosemia) in newborns]
Vasculitis
alpha1-Antitrypsin deficiency associated with persistent cutaneous vasculitis. Occurrence in a child with liver disease.
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