uridine diphosphate galactose and Classic Galactosemia

uridine diphosphate galactose has been researched along with Classic Galactosemia in 43 studies

Research

Studies (43)

Timeframe	Studies, this research(%)	All Research%
pre-1990	11 (25.58)	18.7374
1990's	23 (53.49)	18.2507
2000's	4 (9.30)	29.6817
2010's	5 (11.63)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
McCorvie, TJ; Timson, DJ	1
Bennett, MJ; Chen, J; Meyers, GA	1
Bakker, JA; Bierau, J; Lindhout, M; Rubio-Gozalbo, ME	1
Berry, GT; Elsas, LJ	1
Jun, SH; Kim, JQ; Ko, DH; Park, KU; Song, J; Song, SH	1
Chen, J; Reynolds, R; Segal, S; Wehrli, SL; Yager, C	1
Buist, NR; Donnell, GN; Kaufman, FR; Ng, WG; Wong, LJ; Xu, YK	1
Holden, HM; Rayment, I; Thoden, JB	1
Henderson, MJ; Holton, JB; MacFaul, R	1
Fujimura, Y; Kawamura, M; Naruse, H	1
Derksen-Lubsen, G	1
Berry, GT; Gibson, JB; Mazur, AT; Palmieri, MJ; Reynolds, RA; Segal, S	1
Donnell, GN; Kaufman, FR; Ng, WG; Xu, YK	4
Segal, S	1
Kirkman, HN	3
Shin, YS	1
Berry, GT; Elsas, LJ; Gibson, JB; Levy, HL; Palmieri, MJ; Reynolds, RA; Segal, S	1
Berry, GT; Gibson, JB; Palmieri, MJ; Reynolds, RA; Segal, S; States, B	1
Allen, RJ; Donnell, GN; Kaufman, FR; Koritala, S; Ng, WG; Reichardt, JK; Wolff, J; Xu, YK	1
Allen, JT; Holton, JB; Keevill, NJ	2
de la Cruz, F; Holton, JB; Levy, HL	1
Clemons, EH; Kirkman, HN	1
Brodehl, J; Jakobs, C; Schweitzer, S; Shin, Y	1
Lehotay, DC	1
Alfi, O; Donnell, GN; Giudici, T; Kaufman, FR; Ng, WG; Xu, YK	1
Eguchi, T; Mizoguchi, N; Ono, H; Sakura, N	1
Cohn, RM; Segal, S; Yudkoff, M	1
Ermakova, LI	1
Johansen, S; Keiding, S; Tonnesen, K; Tygstrup, N; Winkler, K	1
Berry, GT; McGuire, EJ; Ornstein, KS; Roth, S; Segal, S	1
Berry, GT; Heales, S; Leonard, JV; Palmieri, MJ; Segal, S	1
Angus, PW; Collins, JE; Dixon, RM; Kalderon, B; Leonard, JV; Oberhaensli, RD; Radda, GK; Rajagopalan, B	1
Eisen, H; Greinix, HT; Hakomori, S; Levy, HL; Nudelman, E; Petry, K; Reichardt, JK	1
Brivet, M; Choulot, JJ; Manelfe, C; Mensire, A; Saint-Martin, J; Sevely, A; Virlon, P	1
Donnell, GN; Kaufman, F; Ng, WG; Xu, YK	1
Bridge, C; Fowler, B; Roberts, SA; Sardharwalla, IB; Wraith, JE	1

Reviews

7 review(s) available for uridine diphosphate galactose and Classic Galactosemia

Article	Year
Structure and function of enzymes of the Leloir pathway for galactose metabolism. The Journal of biological chemistry, 2003, Nov-07, Volume: 278, Issue:45 Topics: Adenosine Triphosphate; Binding Sites; Carbohydrate Epimerases; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Humans; Models, Molecular; Phosphorylation; UDPglucose 4-Epimerase; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose; UTP-Hexose-1-Phosphate Uridylyltransferase	2003
Defective galactosylation in galactosemia: is low cell UDPgalactose an explanation? European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2 Topics: Galactose; Galactosemias; Humans; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1995
Measurements of uridine diphosphate glucose and uridine diphosphate galactose--an appraisal. European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2 Topics: Galactosemias; Humans; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1995
Nucleotide sugars: determination of cellular levels and discrepancies in results. European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2 Topics: Galactosemias; Humans; Uridine Diphosphate Galactose; Uridine Diphosphate Sugars	1995
Galactosemia: the uridine diphosphate galactose deficiency-uridine treatment controversy. The Journal of pediatrics, 1993, Volume: 123, Issue:6 Topics: Child; Chromatography, High Pressure Liquid; Erythrocytes; Galactosemias; Humans; Magnetic Resonance Spectroscopy; Uridine; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose; Uridine Diphosphate Glucose Dehydrogenase	1993
[Clinical variants and basic principles of the diagnosis of galactosemia (review of the literature)]. Voprosy okhrany materinstva i detstva, 1975, Volume: 20, Issue:8 Topics: Diagnosis, Differential; Galactosemias; Humans; Isoenzymes; NADP; Prenatal Diagnosis; United States; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose; UTP-Hexose-1-Phosphate Uridylyltransferase	1975
[Severe neurologic course of galactosemia. Default of myelisation caused by deficient synthesis of UDP-galactose?]. Archives francaises de pediatrie, 1991, Volume: 48, Issue:4 Topics: Galactosemias; Humans; Infant, Newborn; Male; Myelin Sheath; Nervous System Diseases; Time Factors; Uridine Diphosphate Galactose	1991

Other Studies

36 other study(ies) available for uridine diphosphate galactose and Classic Galactosemia

Article	Year
In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia. Gene, 2013, Jul-25, Volume: 524, Issue:2 Topics: Amino Acid Sequence; Computational Biology; Databases, Genetic; Enzyme Activation; Enzyme Stability; Galactosemias; Genetic Predisposition to Disease; Humans; Models, Molecular; Molecular Sequence Data; Mutation, Missense; Polymorphism, Single Nucleotide; Predictive Value of Tests; Protein Folding; Protein Structure, Secondary; Severity of Illness Index; Substrate Specificity; UDPglucose 4-Epimerase; Uridine Diphosphate Galactose; Uridine Diphosphate N-Acetylglucosamine	2013
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. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2014, May-15, Volume: 959 Topics: Chromatography, High Pressure Liquid; Enzyme Assays; Erythrocytes; Galactosemias; Humans; Tandem Mass Spectrometry; UDPglucose 4-Epimerase; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	2014
Direct non-radioactive assay of galactose-1-phosphate:uridyltransferase activity using high performance liquid chromatography. Clinica chimica acta; international journal of clinical chemistry, 2010, Jul-04, Volume: 411, Issue:13-14 Topics: Chromatography, High Pressure Liquid; Enzyme Assays; Female; Galactosemias; Humans; Kinetics; Male; Reference Values; Reproducibility of Results; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose; UTP-Hexose-1-Phosphate Uridylyltransferase	2010
Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia. Journal of inherited metabolic disease, 2011, Volume: 34, Issue:2 Topics: Animals; Congresses as Topic; Galactosemias; Genotype; Humans; Infant Formula; Infant, Newborn; Mice; Phenotype; Treatment Outcome; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose; UTP-Hexose-1-Phosphate Uridylyltransferase	2011
Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots. Journal of inherited metabolic disease, 2011, Volume: 34, Issue:2 Topics: Case-Control Studies; Chemistry, Clinical; Enzyme Assays; Erythrocytes; Galactosemias; Humans; Infant, Newborn; Neonatal Screening; Reproducibility of Results; Sensitivity and Specificity; Tandem Mass Spectrometry; Uridine Diphosphate Galactose	2011
Metabolism of 13C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy. Molecular genetics and metabolism, 2002, Volume: 77, Issue:4 Topics: Carbon Isotopes; Galactose; Galactosemias; Humans; Lymphocytes; Magnetic Resonance Spectroscopy; Ribose; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	2002
Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G). Journal of inherited metabolic disease, 2003, Volume: 26, Issue:1 Topics: Adult; DNA; Female; Galactosemias; Humans; Middle Aged; Mutation; Ovary; Reverse Transcriptase Polymerase Chain Reaction; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	2003
Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. Journal of inherited metabolic disease, 1983, Volume: 6, Issue:1 Topics: Biotransformation; Carbohydrate Epimerases; Dietary Carbohydrates; Erythrocytes; Female; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Infant, Newborn; UDPglucose 4-Epimerase; Uridine Diphosphate Galactose	1983
A new mass screening method for determining UDP-galactose in blood. The Tohoku journal of experimental medicine, 1983, Volume: 141, Issue:3 Topics: Galactosemias; Genetic Carrier Screening; Humans; Mass Screening; Spectrometry, Fluorescence; Uridine Diphosphate Galactose; Uridine Diphosphate Sugars	1983
[The diagnosis of galactosemia: screening or clinical diagnosis?]. Nederlands tijdschrift voor geneeskunde, 1980, Jul-26, Volume: 124, Issue:30 Topics: Female; Galactokinase; Galactose; Galactosemias; Humans; Infant, Newborn; Pregnancy; Racemases and Epimerases; Uridine Diphosphate Galactose; UTP-Hexose-1-Phosphate Uridylyltransferase	1980
Effect of glucose and galactose loading in normal subjects on red and white blood cell uridine diphosphate sugars. Biochemical and molecular medicine, 1995, Volume: 55, Issue:1 Topics: Administration, Oral; Adult; Blood Glucose; Dietary Carbohydrates; Erythrocytes; Female; Galactose; Galactosemias; Galactosephosphates; Glucose; Glycosuria; Humans; Leukocytes; Male; Middle Aged; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1995
Radiochemical assay of minute quantities of galactose-1-phosphate uridyltransferase activity in erythrocytes and leukocytes of galactosemia patients. Clinica chimica acta; international journal of clinical chemistry, 1995, Mar-31, Volume: 235, Issue:2 Topics: Carbon Radioisotopes; Erythrocytes; Galactosemias; Humans; Leukocytes; Reproducibility of Results; Sensitivity and Specificity; Uridine Diphosphate Galactose; UTP-Hexose-1-Phosphate Uridylyltransferase	1995
Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders. Metabolism: clinical and experimental, 1995, Volume: 44, Issue:5 Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Cohort Studies; Erythrocytes; Galactosemias; Heterozygote; Homozygote; Humans; Infant; Infant, Newborn; Metabolic Diseases; Middle Aged; Reference Values; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1995
Uridine diphosphate hexoses in leukocytes and fibroblasts of classic galactosemics and patients with other metabolic diseases. Pediatric research, 1994, Volume: 36, Issue:5 Topics: Adolescent; Adult; Aging; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Galactosemias; Humans; Infant; Infant, Newborn; Leukocytes; Male; Metabolic Diseases; Middle Aged; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1994
Biochemical and molecular studies of 132 patients with galactosemia. Human genetics, 1994, Volume: 94, Issue:4 Topics: Adolescent; Base Sequence; Child; Child, Preschool; Female; Galactosemias; Humans; Infant; Infant, Newborn; Male; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose; UTP-Hexose-1-Phosphate Uridylyltransferase	1994
UDP-glucose and UDP-galactose concentrations in cultured skin fibroblasts of patients with classical galactosaemia. Journal of inherited metabolic disease, 1994, Volume: 17, Issue:1 Topics: Cells, Cultured; Chromatography, High Pressure Liquid; Fibroblasts; Galactosemias; Humans; Skin; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1994
The investigation of UDPGlucose and UDPGalactose concentration in red blood cells of patients with classical galactosaemia. Clinica chimica acta; international journal of clinical chemistry, 1993, Nov-30, Volume: 221, Issue:1-2 Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, High Pressure Liquid; Erythrocytes; Galactosemias; Humans; Infant; Infant, Newborn; Reference Values; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1993
Estimates of uridine diphosphate hexoses in erythrocytes: implications for galactosemia. The Journal of pediatrics, 1993, Volume: 122, Issue:2 Topics: Drug Contamination; Erythrocytes; Female; Galactosemias; Glucose 1-Dehydrogenase; Glucose Dehydrogenases; Humans; Indicators and Reagents; L-Lactate Dehydrogenase; Male; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose; Uridine Diphosphate Glucose Dehydrogenase	1993
Long-term outcome in 134 patients with galactosaemia. European journal of pediatrics, 1993, Volume: 152, Issue:1 Topics: Adolescent; Adult; Cataract; Child; Child, Preschool; Female; Follow-Up Studies; Galactitol; Galactosemias; Galactosephosphates; Growth; Humans; Infant; Intelligence; Male; Microcephaly; Movement Disorders; Retrospective Studies; Speech Disorders; Uridine Diphosphate Galactose	1993
Current controversies about galactosemia. Clinical biochemistry, 1993, Volume: 26, Issue:2 Topics: Adult; Child; Child, Preschool; Galactose; Galactosemias; Humans; Immunoenzyme Techniques; Uridine; Uridine Diphosphate Galactose; UTP-Hexose-1-Phosphate Uridylyltransferase	1993
HPLC analysis of uridine diphosphate sugars: decreased concentrations of uridine diphosphate galactose in erythrocytes and cultured skin fibroblasts from classical galactosemia patients. Clinica chimica acta; international journal of clinical chemistry, 1995, Aug-31, Volume: 240, Issue:1 Topics: Adenosine Monophosphate; Adolescent; Adult; Alkaline Phosphatase; Cells, Cultured; Child; Child, Preschool; Chromatography, High Pressure Liquid; Erythrocytes; Fibroblasts; Galactosemias; Humans; Infant; Reference Values; Reproducibility of Results; Skin; Spectrophotometry, Ultraviolet; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1995
Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening. European journal of pediatrics, 2000, Volume: 159, Issue:11 Topics: Biliary Atresia; Erythrocyte Count; Galactose; Galactosemias; Heterozygote; Humans; Infant, Newborn; Liver Diseases; Mass Screening; Uridine Diphosphate Galactose	2000
Errors of carbohydrate metabolism in infants and children: a survey. Clinical pediatrics, 1978, Volume: 17, Issue:11 Topics: Carbohydrate Metabolism, Inborn Errors; Diarrhea; Fructokinases; Fructose Intolerance; Fructose-1,6-Diphosphatase Deficiency; Galactokinase; Galactose; Galactosemias; Glucose; Humans; Lactose Intolerance; Malabsorption Syndromes; Sucrase-Isomaltase Complex; Syndrome; Transferases; Uridine Diphosphate Galactose	1978
Michaelis-Menten kinetics of galactose elimination by the isolated perfused pig liver. The American journal of physiology, 1976, Volume: 230, Issue:5 Topics: Animals; Female; Galactose; Galactosemias; Hexosephosphates; In Vitro Techniques; Kinetics; Liver; Mathematics; Models, Biological; Swine; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1976
Erythrocytic uridine diphosphate galactose in galactosaemia. Journal of inherited metabolic disease, 1992, Volume: 15, Issue:1 Topics: Adult; Blood Chemical Analysis; Child; Child, Preschool; Erythrocytes; Female; Galactosemias; Humans; Male; NAD; Uridine; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1992
Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency. Pediatric research, 1992, Volume: 31, Issue:5 Topics: Carbohydrate Metabolism; Carbohydrate Sequence; Carbohydrates; Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Glycosylation; Humans; Molecular Sequence Data; Uridine Diphosphate Galactose; UTP-Hexose-1-Phosphate Uridylyltransferase	1992
Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders. Metabolism: clinical and experimental, 1992, Volume: 41, Issue:7 Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Erythrocytes; Female; Galactosemias; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Middle Aged; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1992
A study of galactose intolerance in human and rat liver in vivo by 31P magnetic resonance spectroscopy. Pediatric research, 1992, Volume: 32, Issue:1 Topics: Adenosine Triphosphate; Adult; Animals; Child; Disease Models, Animal; Female; Galactose; Galactosemias; Galactosephosphates; Humans; Liver; Magnetic Resonance Spectroscopy; Male; NAD; Phosphates; Rats; Rats, Inbred Strains; Uridine Diphosphate Galactose	1992
Uridine diphosphate glucose and uridine diphosphate galactose in galactosemia. The Journal of pediatrics, 1991, Volume: 119, Issue:2 Topics: Child; Erythrocytes; Galactosemias; Humans; Methods; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1991
Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes. Biochemical medicine and metabolic biology, 1991, Volume: 46, Issue:1 Topics: Acetylgalactosamine; Brain; Cell Line; Cerebrosides; Galactose; Galactosemias; Gangliosides; Glycolipids; Glycosphingolipids; Humans; Infant, Newborn; Lymphocytes; Uridine Diphosphate Galactose	1991
Uridine diphosphate glucose and uridine diphosphate galactose in galactosemia. The Journal of pediatrics, 1990, Volume: 117, Issue:5 Topics: Adult; Age Factors; Child; Chromatography, High Pressure Liquid; Erythrocytes; Galactosemias; Hemoglobins; Humans; Indicators and Reagents; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose	1990
Deficit of uridine diphosphate galactose in galactosaemia. Journal of inherited metabolic disease, 1989, Volume: 12, Issue:3 Topics: Cells, Cultured; Erythrocytes; Fibroblasts; Galactosemias; Galactosephosphates; Humans; Liver; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Uridine; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose; Uridine Diphosphate Sugars	1989
Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency. Journal of inherited metabolic disease, 1989, Volume: 12, Issue:4 Topics: Adolescent; Adult; Child; Child, Preschool; Erythrocytes; Female; Galactokinase; Galactosemias; Humans; Male; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose; Uridine Diphosphate Sugars	1989
Milk produced by mothers with galactosemia. The Journal of pediatrics, 1989, Volume: 115, Issue:1 Topics: Adult; Female; Galactosemias; Humans; Lactation; Lactose; Milk, Human; Pregnancy; Uridine Diphosphate Galactose; Uridine Diphosphate Sugars	1989
Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia. The Journal of pediatrics, 1988, Volume: 112, Issue:5 Topics: Adolescent; Adult; Child; Child, Preschool; Female; Galactosemias; Galactosephosphates; Humans; Infant; Nucleotidyltransferases; Ovary; Uridine Diphosphate Galactose; UTP-Hexose-1-Phosphate Uridylyltransferase	1988
A patient with severe type of epimerase deficiency galactosaemia. Journal of inherited metabolic disease, 1988, Volume: 11 Suppl 2 Topics: Carbohydrate Epimerases; Female; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; UDPglucose 4-Epimerase; Uridine Diphosphate Galactose	1988