Any feedback?
Please rate this page
(enzyme.php)
(0/150)

BRENDA support

Disease on EC 2.7.7.10 - UTP-hexose-1-phosphate uridylyltransferase

Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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.
Apraxias
Outcomes analysis of verbal dyspraxia in classic galactosemia.
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.
Blepharophimosis
Genetic disorders in premature ovarian failure.
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.
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.
Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations.
Cataract formation in diabetic patients and galactose-1-phosphate uridyltransferase deficiency.
Cataracts and depressed galactose-1-phosphate uridyl transferase activity in a cus cus (Phalanger maculatus).
Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.
Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.
Clinical features of galactokinase deficiency: a review of the literature.
Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia.
Galactose intolerance and the risk of cataract.
Galactosemic enzyme levels in presenile cataracts.
Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.
Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.
Presenile cataract formation and decreased activity of galactosemic enzymes.
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.
Strain difference in galactokinase level and susceptibility to the teratogenic effect of dietary galactose in mice: I. Teratogenic and embryopathic effect.
Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation.
Therapies for galactosemia: a patent landscape.
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
[Activity of enzymes of galactose metabolism in so-called congenital cataract (author's transl)]
[Galactose-1-phosphate uridyl transferase and congenital 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 associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT).
Endometriosis is not associated with or linked to the GALT gene.
Molecular approach to common causes of female infertility.
Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and 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.
Fanconi Syndrome
Two familial cases of high blood galactose of unknown aetiology.
galactokinase deficiency
Clinical features of galactokinase deficiency: a review of the literature.
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
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.
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.
A Drosophila melanogaster model of classic galactosemia.
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
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.
A molecular approach to galactosemia.
A mouse model of galactose-1-phosphate uridyl transferase deficiency.
A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.
A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate.
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.
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family.
A prevalent mutation for galactosemia among black Americans.
Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency.
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.
An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia.
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.
An updated review of the long-term neurological effects of galactosemia.
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.
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.
ARHI: A new target of galactose toxicity in Classic Galactosemia.
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
Biochemical and molecular studies of 132 patients with galactosemia.
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
Black children deficient in galactose 1-phosphate uridyltransferase: correlation of activity and immunoreactive protein in erythrocytes and leukocytes.
Cataract formation in diabetic patients and galactose-1-phosphate uridyltransferase deficiency.
Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes.
Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system.
Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.
Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.
Classic galactosemia presenting with unilateral Peters' anomaly.
Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model.
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Classical Galactosemia: Insight into Molecular Pathomechanisms by Differential Membrane Proteomics of Fibroblasts under Galactose Stress.
Clinical features of galactokinase deficiency: a review of the literature.
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
Comparison of galactose-1-phosphate uridyl transferase in fetal and adult tissues.
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.
Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.
Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia.
Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.
Crystal structures of HINT demonstrate that histidine triad proteins are GalT-related nucleotide-binding proteins.
Current and Future Treatments for Classic Galactosemia.
Determination of [(13)C]galactose enrichment in human plasma by gas chromatography/positive chemical ionization tandem mass spectrometry.
Differential Proteomics of Urinary Exovesicles from Classical Galactosemic Patients Reveals Subclinical Kidney Insufficiency.
Discovery of novel inhibitors of human galactokinase by virtual screening.
Distribution of Q188R and N314D mutations in the Hungarian galactosemic population.
Drosophila melanogaster Models of Galactosemia.
Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia.
Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia.
Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Effect of uridine on hepatic galactose-1-phosphate uridyltransferase.
Effects of galactosemia in utero.
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study.
Electrophoretic abnormality of galactose-1-phosphate uridyl transferase in galactosemia.
Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula.
Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia.
Erythrocyte Galactose-1-phosphate measurement by GC-MS in the monitoring of classical galactosemia.
Estimation of amniotic cell galactose-1-phosphate uridyltransferase for prenatal diagnosis of galactosemia in Taiwan.
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.
Expression of galactose-1-phosphate uridyltransferase in the anterior pituitary of rat during the estrous cycle.
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency.
Fluorinated Galactoses Inhibit Galactose-1-Phosphate Uridyltransferase and Metabolically Induce Galactosemia-like Phenotypes in HEK-293 Cells.
Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments.
Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia.
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.
Frequency Distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT Variant Alleles in an Indian Galactosemia Population.
Functional analysis of GALT variants found in classic galactosemia patients using a novel cell-free translation method.
Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.
Functional analysis of the mouse galactose-1-phosphate uridyl transferase (GALT)promoter.
Functional consequence of substitutions at residue 171 in human galactose-1-phosphate uridylyltransferase.
Galactitol and galactonate in red blood cells of galactosemic patients.
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia.
Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency.
Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet.
Galactose oxidation using 13C in healthy and galactosemic children.
Galactose-1-phosphate is a regulator of inositol monophosphatase: a fact or a fiction?
Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies.
Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes. Studies of normal and mutant enzymes.
Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples.
Galactose-1-phosphate uridyltransferase activities in erythrocytes from a patient with galactosemia: discrepancy between two methods.
Galactose-1-Phosphate Uridyltransferase deficiency: a literature review of the putative mechanisms of short and long-term complications and allelic variants.
Galactosemia and amenorrhea in the adolescent.
Galactosemia as a result of galactose-1-phosphate uridyltransferase deficiency.
Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene.
Galactosemia in Thai patient at Phramongkutklao Hospital: a case report.
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
Galactosemia Presenting as Recurrent Sepsis.
Galactosemia with chorea--an unusual presentation.
Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.
Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.
Galactosemia: when is it a newborn screening emergency?
GALT Deficiency Galactosemia.
GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants.
GALT protein database: querying structural and functional features of GALT enzyme.
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
Genetic basis of galactosemia.
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
High-throughput screening for human galactokinase inhibitors.
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia.
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.
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.
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.
Identification of novel mutations in classical galactosemia.
Impaired fertility and motor function in a zebrafish model for classic galactosemia.
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 evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy.
In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency.
Innovative therapy for Classic Galactosemia - tale of two HTS.
Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model.
Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model.
Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Living situation, occupation and health-related quality of life in adult patients with classic galactosemia.
Living with classical galactosemia: health-related quality of life consequences.
Loss of transferase enzyme activity of transfused erythrocytes in galactosemia.
Minimizing false positive diagnoses in newborn screening for galactosemia.
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
Modulation of rat tissue galactose-1-phosphate uridyltransferase by uridine and uridine triphosphate.
Molecular analysis in newborns from Texas affected with galactosemia.
Molecular analysis of 11 galactosemia patients.
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele.
Molecular and biochemical basis of galactosemia.
Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.
Molecular basis and clinical presentation of classic galactosemia in a Croatian population.
Molecular basis for Duarte and Los Angeles variant galactosemia.
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
Molecular characterization of galactosemia (type 1) mutations in Japanese.
Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
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.
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
Mutational analysis of the GALT gene in filipino patients.
Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.
N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.
Newborn screening for galactosemia: a 30-year single center experience.
Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach.
Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.
Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
Outcomes analysis of verbal dyspraxia in classic galactosemia.
Outcomes of siblings with classical galactosemia.
Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model.
Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.
Phenotype-Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene.
Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt.
Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion.
Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry.
Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia.
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.
Prevention of a molecular misdiagnosis in galactosemia.
Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry.
Radiochemical assay of minute quantities of galactose-1-phosphate uridyltransferase activity in erythrocytes and leukocytes of galactosemia patients.
Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma.
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Regulation of galactose metabolism: implications for therapy.
Regulatory effects of galactose on galactose-1-phosphate uridyltransferase activity on human hepatoblastoma HepG2 cells.
Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
Risk factors for premature ovarian failure in females with galactosemia.
Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air.
Serum markers of bone turnover in children and adolescents with classic galactosemia.
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.
Structural and molecular biology of type I galactosemia: disease-associated mutations.
Structure activity relationships of human galactokinase inhibitors.
Structure-activity analysis and cell-based optimization of human galactokinase inhibitors.
Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany.
Study of a family with Los Angeles, Duarte, and classical galactosemia variants of galactose-1-phosphate uridyl transferase.
Sugar recognition by human galactokinase.
Sweet and sour: an update on classic galactosemia.
The adult galactosemic phenotype.
The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase.
The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency.
The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.
The genetic basis of classical galactosaemia in Polish patients.
The human galactose-1-phosphate uridyltransferase gene.
The molecular basis of galactosemia - Past, present and future.
The molecular biology of galactosemia.
The natural history of classic galactosemia: lessons from the GalNet registry.
The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency.
The roles of galactitol, galactose-1-phosphate, and phosphoglucomutase in galactose-induced toxicity in Saccharomyces cerevisiae.
The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.
The Unfolded Protein Response Has a Protective Role in Yeast Models of Classic Galactosemia.
The yeast, Saccharomyces cerevisiae, as a model system for the study of human genetic disease.
Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.
Transient developmental delays in infants with Duarte-2 variant galactosemia.
Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia.
UDP-galactose pyrophosphorylase in mice with galactose-1-phosphate uridyltransferase deficiency.
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.
Unstable galactose-1-phosphate uridyl transferase: a new variant of galactosemia.
Untreated classical galactosemia patient with mild phenotype.
Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy.
Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.
Using a Personal Glucose Meter and Alkaline Phosphatase for Point-of-Care Quantification of Galactose-1-Phosphate Uridyltransferase in Clinical Galactosemia Diagnosis.
[Determination of erythrocyte galactose-1-phosphate uridyltransferase in experimental galactosemia and variations induced by orotic acid.]
[Determination of galactose-1-phosphate uridyl transferase in capillary blood in galactosemia. Use in family examinations]
[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]
[Galactose-1-phosphate uridyltransferase deficiency]
[Galactosemia: a problem still unsolved]
[Galactosemia]
[Induction of galactose-1-phosphate uridylyltransferase in rat liver by galactose and experimental galactosemia]
[Late diagnosis of classical galactosemia. An adult with special biochemistry]
[Premature ovarian failure in galactosaemia: pathophysiology and clinical management]
[Screening for galactose-1-phosphate uridyltransferase deficiency (classic galactosemia) in newborns]
[Vitreous hemorrhage in a neonate with galactosemia. A case report]
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.
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.
Expression of galactose-1-phosphate uridyltransferase in the anterior pituitary of rat during the estrous cycle.
Frequency Distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT Variant Alleles in an Indian Galactosemia Population.
Galactosemia and amenorrhea in the adolescent.
GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants.
GALT protein database: querying structural and functional features of GALT enzyme.
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots.
Impaired fertility and motor function in a zebrafish model for classic galactosemia.
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
Sugar recognition by human galactokinase.
The roles of galactitol, galactose-1-phosphate, and phosphoglucomutase in galactose-induced toxicity in Saccharomyces cerevisiae.
The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.
Glaucoma
A case of trisomy 3q21 leads to qter syndrome.
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.
Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia.
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.
l-iditol 2-dehydrogenase deficiency
Plasma polyol levels in patients with cataract.
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.
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia.
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.
Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma.
Serum markers of bone turnover in children and adolescents with classic galactosemia.
[Galactosemia: a problem still unsolved]
Metabolism, Inborn Errors
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
Micrognathism
A case of trisomy 3q21 leads to qter syndrome.
Muscle Hypotonia
A case of trisomy 3q21 leads to qter syndrome.
Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.
Neoplasms
Molecular approach to common causes of female infertility.
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.
Characteristics of women with a family history of ovarian cancer. I. Galactose consumption and metabolism.
Duarte galactose-1-phosphate uridyl transferase genotypes are not associated with ovarian cancer risk.
Epidemiologic aspects of early menopause and ovarian cancer.
Galactose-1-phosphate uridyl transferase (GALT) genotype and phenotype, galactose consumption, and the risk of borderline and invasive ovarian cancer (United States).
Genetic epidemiology of epithelial ovarian cancer.
Milk/dairy products consumption, galactose metabolism and ovarian cancer: meta-analysis of epidemiological studies.
Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis.
The N314D polymorphism of galactose-1-phosphate uridyl transferase does not modify the risk of ovarian cancer.
Phenylketonurias
Newborn screening for galactosemia: a 30-year single center experience.
Primary Ovarian Insufficiency
Galactose-1-phosphate uridyl transferase gene mutations in women with premature ovarian failure.
Risk factors for premature ovarian failure in females with galactosemia.
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.
Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia.
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.
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.
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
Syndactyly
A case of trisomy 3q21 leads to qter syndrome.
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.
A mouse model of galactose-1-phosphate uridyl transferase deficiency.
A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.
A pulsed amperometric detection method of galactose 1-phosphate for galactosemia diagnosis.
Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency.
Cataract formation in diabetic patients and galactose-1-phosphate uridyltransferase deficiency.
Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.
Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia.
Effect of uridine on hepatic galactose-1-phosphate uridyltransferase.
Effects of galactosemia in utero.
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study.
Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia.
Galactose disorders: an overview.
Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency.
Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet.
Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies.
Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients.
Galactose-1-Phosphate Uridyltransferase deficiency: a literature review of the putative mechanisms of short and long-term complications and allelic variants.
Galactosemia as a result of galactose-1-phosphate uridyltransferase deficiency.
Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.
In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy.
In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency.
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Late onset of distinct neurologic syndromes in galactosemic siblings.
Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.
Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.
Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.
Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry.
Pregnancy after oocyte donation to a woman with ovarian failure and classical galactosemia.
Regulation of galactose metabolism: implications for therapy.
Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany.
The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency.
The genetics of galactose-1-phosphate uridyl transferase deficiency.
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency.
Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia.
UDP-galactose pyrophosphorylase in mice with galactose-1-phosphate uridyltransferase deficiency.
Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy.
Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.
[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]
[Galactose-1-phosphate uridyltransferase deficiency]
[Galactosemia: a problem still unsolved]
[Premature ovarian failure in galactosaemia: pathophysiology and clinical management]
[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.