galactose-1-phosphate has been researched along with Classic Galactosemia in 98 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 26 (26.53) | 18.7374 |
1990's | 22 (22.45) | 18.2507 |
2000's | 27 (27.55) | 29.6817 |
2010's | 16 (16.33) | 24.3611 |
2020's | 7 (7.14) | 2.80 |
Authors | Studies |
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Abu Salah, N; Almashanu, S; Anikster, Y; Barel, O; Daas, S; Damseh, NS; Dumin, E; Falik-Zaccai, TC; Fattal-Valevski, A; Habib, C; Josefsberg, S; Kneller, K; Korman, SH; Landau, Y; Lerman-Sagie, T; Mandel, H; Manor, Y; Moady Abdalla, T; Rock, R; Rostami, N; Saada, A; Saraf-Levy, T; Shaul Lotan, N; Spiegel, R; Staretz-Chacham, O; Tal, G; Ulanovsky, I; Vaisid, T; Wilnai, Y | 1 |
Druss, JJ; Fridovich-Keil, JL; Potter, NL; Rudd Zhong Manis, J | 1 |
An, D; Balakrishnan, B; DeAntonis, C; Lai, K; Martini, PGV; Nguyen, V | 1 |
Cheng, LY; Hagen, T; Henke, W; J Zhou, JF; Oh, SL | 1 |
Daenzer, JMI; Fridovich-Keil, JL; Geurts, AM; Head, ST; MacWilliams, JA; Rasmussen, SA; Schroeder, JP; Weinshenker, D; Williams, MB | 1 |
Doss C, GP; Kumar D, T; Kumar S, U; R, S; Zayed, H | 1 |
Al-Essa, M; Dhaunsi, G | 1 |
Andrews, A; Longo, N; Pasquali, M; Viau, K; Yuzyuk, T | 1 |
Balakrishnan, B; De Biase, I; Hobert, J; Lai, K; Longo, N; Mao, R; Pasquali, M; Schwarz, EL; Yuzyuk, T | 1 |
Cardoso, MT; Coelho, AI; Costa, C; de Almeida, IT; Diogo, L; Ferreira, E; Garcia, P; Gaspar, A; Leite, M; Martins, E; Oliveira, A; Paiva, S; Ramos, R; Rivera, I; Rodrigues, E; Sequeira, S; Silva, MJ; Teles, EL; Vicente, JB | 1 |
Al-Essa, M; Al-Qabandi, W; Dhaunsi, GS; Khan, I | 1 |
da-Silva, WS; De-Souza, EA; Machado, CM; Martins, LS; Masuda, CA; Montero-Lomelí, M; Pimentel, FS | 1 |
Bean, LH; Conway, RL; Fridovich-Keil, JL; Liu, Y; Sidhu, A | 1 |
Daenzer, JM; Fridovich-Keil, JL; Garza, KR; Hopson, ML; Jumbo-Lucioni, PP; Ryan, EL | 1 |
Boers, GH; Bosch, AM; Guion, N; Hammen, HW; Janssen, M; Kamalanathan, L; Schadewaldt, P; Schwarz, M; Wendel, U | 1 |
Hong, SP; Jeong, JS; Kwon, HJ; Lee, YM; Yoon, HR | 1 |
Clark, A; Geoghegan, O; Hendroff, U; Hughes, J; Lambert, D; Monavari, A; Rogers, Y; Ryan, S; Treacy, EP; Twomey, E | 1 |
Elsas, LJ; Lai, K; Wierenga, KJ | 1 |
Jun, SH; Kim, JQ; Ko, DH; Park, HD; Park, KU; Song, J; Song, SH; Song, YH | 1 |
Berry, GT; Harmonay, L; Kellogg, M; Li, Y; Ptolemy, AS | 1 |
Fernhoff, PM | 1 |
Ficicioglu, C; Gallagher, PR; Hussa, C; Thomas, N; Yager, C | 1 |
McCorvie, TJ; Timson, DJ | 1 |
Barbagallo, L; Barco, S; Biasucci, G; Cangemi, G; Di Rocco, M; Giovannini, M; Lia, R; Melioli, G; Paci, S | 1 |
Berry, GT | 1 |
DuBoff, B; Feany, MB; Fridovich-Keil, JL; Ryan, EL | 1 |
Fridovich-Keil, JL; Hang, D; Hopson, ML; Jones, DP; Jumbo-Lucioni, PP; Liang, Y | 1 |
Bhat, PJ | 1 |
Elsas, LJ; Kennedy, MJ; Singh, RH; Webb, AL | 1 |
Holden, HM; Rayment, I; Thoden, JB | 1 |
ANDERSON, EP; ISSELBACHER, KJ; KALCKAR, HM | 1 |
TADA, K | 1 |
BRANDT, NJ | 1 |
BERGREN, WR; DONNELL, GN; KOCH, R; PERRY, G | 1 |
ROBINSON, A | 1 |
FISHER, MM; SAMOLS, E; SHERLOCK, S; SPEAR, S | 1 |
BERGREN, WR; DONNELL, GN; WONGIN, NG | 1 |
BERGEN, WR; DONNELL, GN; NG, WG | 1 |
Hammen, HW; Kamalanathan, L; Schadewaldt, P; Wendel, U | 1 |
Behrakis, P; Marinou, K; Schulpis, KH; Tsakiris, S | 1 |
Bakker, HD; Bosch, AM; Wanders, RJ; Wenniger-Prick, LJ; Wijburg, FA | 1 |
Antshel, KM; Epstein, IO; Waisbren, SE | 1 |
Behrakis, P; Marinou, K; Schulpis, KH; Tsakiris, S; Tsopanakis, C | 2 |
Michelakakis, H; Schulpis, KH; Tsakiris, S; Tsakiris, T | 1 |
Packman, S; Zlatunich, CO | 1 |
Addo, F; Lai, K; Slepak, T; Tang, M | 1 |
Michelakakis, H; Schulpis, KH; Tsakiris, S | 1 |
Brunetti-Pierri, N; Craigen, WJ; Opekun, AR | 1 |
Nasiell, J; Ohlsson, A; von Döbeln, U | 1 |
Ficicioglu, C; Hussa, C; Segal, S; Yager, C | 1 |
Bartzeliotou, A; Kalogerakou, M; Karikas, GA; Papakonstantinou, ED; Schulpis, KH; Tsakiris, S | 1 |
Choi, TY; Hong, SP; Jeong, JS; Kwon, HJ; Lee, YM; Yoon, HR | 1 |
Cuthbert, C; Elsas, L; Klapper, H | 1 |
Bodourian, SH; Pesce, MA | 1 |
Henderson, MJ; Holton, JB; MacFaul, R | 1 |
Kawakami, M; Misuma, H; Ninomiya, H; Shohmori, T; Wada, H | 1 |
Levy, HL; Pacholec, F; Paigen, K | 1 |
Bodourian, SH; Nicholson, JF; Pesce, MA | 1 |
Fujimura, Y; Kawamura, M; Naruse, H | 1 |
Fujimura, Y; Ishii, S; Kawamura, M; Naruse, H | 1 |
Berry, GT; Gibson, JB; Mazur, AT; Palmieri, MJ; Reynolds, RA; Segal, S | 1 |
Cleary, MA; Heptinstall, LE; Walter, JH; Wraith, JE | 1 |
Gitzelmann, R | 1 |
Koch, HG; Möller, HE; Schuierer, G; Ullrich, K; Vermathen, P | 1 |
Rosé-Beutler, B; Schlüchter, R; Wiesmann, UN | 1 |
Bresolin, N; Comi, GP; Fortunato, F; Gallanti, A; Gonano, EF; Meola, G; Ninfali, P; Pifferi, S; Tajana, A; Velicogna, M | 1 |
Brodehl, J; Jakobs, C; Schweitzer, S; Shin, Y | 1 |
Badawi, N; Beigi, B; Bowell, R; Lanigan, B; Naughten, E; O'Keefe, M | 1 |
Gathof, BS; Giugliani, R; Gresser, U; Podskarbi, T; Shin, YS; Sommer, M | 1 |
Fridovich-Keil, JL; Wells, L | 1 |
Michelakakis, H; Papakonstantinou, ED; Patsouras, A; Podskarbi, T; Schulpis, K; Shin, Y | 1 |
Charlwood, J; Clayton, P; Keir, G; Mian, N; Winchester, B | 1 |
Haubner, M; Ottensmeier, H; Podskarbi, T; Schuster, V; Shin, YS | 1 |
Allen, J; Green, A; Holton, JB; Hutchesson, AC; Murdoch-Davis, C; Preece, MA; Rylance, G | 1 |
Eguchi, T; Hamakawa, M; Mawatari, H; Mizoguchi, N; Ono, H; Sakura, N | 1 |
Bakker, HD; de Jongh, S; IJst, L; Jakobs, C; Vreken, P; Wanders, RJ | 1 |
Fridovich-Keil, JL; Wohlers, TM | 1 |
Berry, GT; Chen, J; Leslie, N; Ning, C; Reynolds, R; Segal, S; Yager, C | 1 |
Brandt, NJ; Christensen, E; Jensen, UG; Nørgaard-Pedersen, B; Simonsen, H; Skovby, F | 1 |
Chen, J; Palmieri, M; Reynolds, R; Segal, S; Yager, C | 1 |
Bozkowa, K; Cabalska, B; Grodzka, Z; Zbieg-Sendecka, E | 1 |
Bock, D; Diepenbrock, F; Engelhard, T; Heckler, R; Sander, J; Schickling, H | 1 |
Angus, PW; Collins, JE; Dixon, RM; Kalderon, B; Leonard, JV; Oberhaensli, RD; Radda, GK; Rajagopalan, B | 1 |
Buist, NR; Donnell, GN; Waggoner, DD | 1 |
Lemonnier, A; Mangeot, M; Pourci, ML; Soni, T | 1 |
Hata, M; Ichiba, Y; Inoue, B; Misumi, H; Mori, T; Wada, H | 1 |
Hartmann, PE; Riordan, PR; Wilson, RG | 1 |
Donnell, GN; Kaufman, FR; Ng, WG; Xu, YK | 1 |
Dilling, LA; Ford, JD; Greenberg, CR; Haworth, JC; Seargeant, LE; Thompson, R | 1 |
Brivet, M; Konopka, P; Lemonnier, A; Odievre, M; Raymond, JP | 1 |
Grodzka, Z; Mańkowski, T; Zbieg-Sendecka, E | 1 |
Bridge, C; Fowler, B; Roberts, SA; Sardharwalla, IB; Wraith, JE | 1 |
Máté, M | 1 |
Guthrie, R; Jinks, DC; Orfanos, AP | 1 |
Barth, CA; Kopra, N | 1 |
Egués, X; Elcarte, R; Erice, B; Olivera, JE; Ollaquindia, P; Sanz, MJ | 1 |
Castree, K; Irons, M; Levy, HL; Pueschel, S | 1 |
5 review(s) available for galactose-1-phosphate and Classic Galactosemia
Article | Year |
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Galactose toxicity in animals.
Topics: Animals; Galactitol; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Inositol; Models, Animal; Neonatal Screening; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase | 2009 |
The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.
Topics: Escherichia coli; Galactosemias; Galactosephosphates; Humans; Metabolic Networks and Pathways; Models, Molecular; Molecular Structure; UTP-Hexose-1-Phosphate Uridylyltransferase | 2011 |
Galactosemia: when is it a newborn screening emergency?
Topics: Galactose; Galactosemias; Galactosephosphates; Genotype; Humans; Infant, Newborn; Mutation; Neonatal Screening; Polymorphism, Genetic; UTP-Hexose-1-Phosphate Uridylyltransferase | 2012 |
Structure and function of enzymes of the Leloir pathway for galactose metabolism.
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 |
Galactose-1-phosphate in the pathophysiology of galactosemia.
Topics: Galactose; Galactosemias; Galactosephosphates; Glucose; Humans; Infant, Newborn; Phosphorylation | 1995 |
2 trial(s) available for galactose-1-phosphate and Classic Galactosemia
Article | Year |
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Verbal dyspraxia and galactosemia.
Topics: Adult; Apraxias; Breath Tests; Carbon Dioxide; Carbon Isotopes; Child; Erythrocytes; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Genotype; Humans; Male; Phenotype; Prospective Studies; Reproducibility of Results; Risk Factors; Sensitivity and Specificity | 2003 |
Leguminosae in the diet: the raffinose-stachyose question.
Topics: Adult; Child; Fabaceae; Female; Galactose; Galactosemias; Galactosephosphates; Humans; Oligosaccharides; Plants, Medicinal; Raffinose | 1995 |
91 other study(ies) available for galactose-1-phosphate and Classic Galactosemia
Article | Year |
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Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Topics: Galactosemias; Humans; Infant, Newborn; Neonatal Screening; Pilot Projects; Racemases and Epimerases; UTP-Hexose-1-Phosphate Uridylyltransferase | 2023 |
Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.
Topics: Animals; Female; Galactose; Galactosemias; Hand Strength; Humans; Male; Rats; UTP-Hexose-1-Phosphate Uridylyltransferase | 2023 |
Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.
Topics: Animals; Animals, Newborn; Cells, Cultured; Disease Models, Animal; Erythrocytes; Female; Fibroblasts; Galactose; Galactosemias; Galactosephosphates; Humans; Injections, Intraperitoneal; Injections, Intravenous; Liver; Male; Mice; Mice, Knockout; RNA, Messenger; Signal Transduction; Transfection; Treatment Outcome; UTP-Hexose-1-Phosphate Uridylyltransferase | 2020 |
Galactose 1-phosphate accumulates to high levels in galactose-treated cells due to low GALT activity and absence of product inhibition of GALK.
Topics: Galactose; Galactosemias; Galactosephosphates; HEK293 Cells; Humans; UTP-Hexose-1-Phosphate Uridylyltransferase | 2020 |
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.
Topics: Animals; Animals, Newborn; Disease Models, Animal; Female; Galactose; Galactosemias; Galactosephosphates; Male; Phenotype; Rats; Rats, Sprague-Dawley; UTP-Hexose-1-Phosphate Uridylyltransferase | 2020 |
An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia.
Topics: Galactosemias; Galactosephosphates; Humans; Mutation; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; UTP-Hexose-1-Phosphate Uridylyltransferase | 2020 |
Receptor-mediated attenuation of insulin-like growth factor-1 activity by galactose-1-phosphate in neonate skin fibroblast cultures: Galactosemia pathogenesis.
Topics: Cells, Cultured; Fibroblasts; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Insulin-Like Growth Factor I | 2020 |
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
Topics: Adolescent; Adolescent Development; Adult; Age Factors; Biomarkers; Child; Child Development; Child Nutritional Physiological Phenomena; Child, Preschool; Disease Progression; Erythrocytes; Female; Galactosemias; Galactosephosphates; Humans; Infant; Male; Nutritional Status; Predictive Value of Tests; Treatment Outcome; Up-Regulation; UTP-Hexose-1-Phosphate Uridylyltransferase; Young Adult | 2018 |
Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Topics: Adolescent; Adult; Child; Child, Preschool; Erythrocytes; Female; Galactosemias; Galactosephosphates; Genotype; Humans; Infant; Infant, Newborn; Male; UTP-Hexose-1-Phosphate Uridylyltransferase; Young Adult | 2018 |
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
Topics: Adolescent; Adult; Alleles; DNA Mutational Analysis; Female; Galactose; Galactosemias; Galactosephosphates; Gene Frequency; Genetic Association Studies; Homozygote; Humans; Male; Mutation, Missense; Phenotype; Portugal; RNA Splicing; UTP-Hexose-1-Phosphate Uridylyltransferase; Young Adult | 2014 |
Impaired NADPH oxidase activity in peripheral blood lymphocytes of galactosemia patients.
Topics: Antioxidants; Blotting, Western; Case-Control Studies; Cell Separation; Cells, Cultured; Child, Preschool; Galactose; Galactosemias; Galactosephosphates; Glucosephosphate Dehydrogenase; Humans; Infant; Lipid Peroxidation; Lymphocytes; Malondialdehyde; NADPH Oxidase 1; NADPH Oxidases; Nitrites; Phosphoproteins | 2013 |
The unfolded protein response has a protective role in yeast models of classic galactosemia.
Topics: Alternative Splicing; Basic-Leucine Zipper Transcription Factors; Endoplasmic Reticulum; Fungal Proteins; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Gene Expression Regulation, Fungal; Glycoproteins; HSP70 Heat-Shock Proteins; Humans; Mutation; Oxidoreductases Acting on Sulfur Group Donors; Protein Folding; Repressor Proteins; RNA, Messenger; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Unfolded Protein Response | 2014 |
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
Topics: Adult; Asymptomatic Diseases; Cells, Cultured; Consanguinity; Female; Galactosemias; Galactosephosphates; Gene Expression; Genetic Loci; Genetic Testing; Herpesvirus 4, Human; Heterozygote; Homozygote; Humans; Infant, Newborn; Lymphocytes; Male; Mutation; Neonatal Screening; Transformation, Genetic; UTP-Hexose-1-Phosphate Uridylyltransferase | 2015 |
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.
Topics: Animals; Disease Models, Animal; Drosophila melanogaster; Female; Fertility; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Larva; Male; Metabolic Networks and Pathways; Phenotype | 2016 |
Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature.
Topics: Adult; Breast Feeding; Cesarean Section; Erythrocytes; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Lactation; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Young Adult | 2009 |
Galactosemia screening by simultaneous blood spot quantification of galactose and galactose 1-phosphate.
Topics: Adult; Anion Exchange Resins; Blood Specimen Collection; Chromatography, Ion Exchange; Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn | 2008 |
Outcomes of siblings with classical galactosemia.
Topics: Adolescent; Adult; Birth Order; Brain; Child; Child, Preschool; Diet Records; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Intelligence Tests; Ireland; Lactose; Language Disorders; Magnetic Resonance Spectroscopy; Male; Neurologic Examination; Patient Compliance; Retrospective Studies; Siblings; Young Adult | 2009 |
Multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry.
Topics: Chromatography, High Pressure Liquid; Enzyme Assays; Erythrocytes; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Humans; Linear Models; Reproducibility of Results; Tandem Mass Spectrometry; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase | 2010 |
Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry.
Topics: Chromatography, Liquid; Enzyme Assays; Erythrocytes; Galactosemias; Galactosephosphates; Humans; Limit of Detection; Tandem Mass Spectrometry; UTP-Hexose-1-Phosphate Uridylyltransferase | 2010 |
Duarte galactosemia: how sweet is it?
Topics: Child; Child, Preschool; Dietary Carbohydrates; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Sugar Acids | 2010 |
Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate.
Topics: Child; Child, Preschool; Dietary Carbohydrates; Erythrocytes; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Male; Monitoring, Physiologic; Reference Values; Sugar Acids | 2010 |
Erythrocyte Galactose-1-phosphate measurement by GC-MS in the monitoring of classical galactosemia.
Topics: Adult; Calibration; Case-Control Studies; Diagnostic Techniques and Procedures; Erythrocytes; Galactosemias; Galactosephosphates; Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Limit of Detection; Reference Standards | 2012 |
Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia.
Topics: Aging; Animals; Brain; Diet; Disease Models, Animal; Drosophila melanogaster; Drosophila Proteins; Dyskinesias; Galactose; Galactosemias; Galactosephosphates; Galactosyltransferases; Humans; Motor Activity; Movement; Muscles; Reflex, Startle; Time Factors | 2012 |
Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia.
Topics: Animals; Antioxidants; Ascorbic Acid; Cysteine; Dimethyl Sulfoxide; Disease Models, Animal; Drosophila melanogaster; Drosophila Proteins; Galactose; Galactosemias; Galactosephosphates; Gene Expression; Gene Knockout Techniques; Genes, Insect; Glutathione; Glutathione Transferase; Humans; Mutation; Oxidative Stress; Paraquat; Reactive Oxygen Species; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Xanthones | 2013 |
Galactose-1-phosphate is a regulator of inositol monophosphatase: a fact or a fiction?
Topics: Galactosemias; Galactosephosphates; Humans; Models, Biological; Phosphatidylinositols; Phosphoric Monoester Hydrolases; Second Messenger Systems; Substrate Specificity | 2003 |
Defect in uptake of galactose-1-phosphate into liver nucleotides in congenital galactosemia.
Topics: Biochemical Phenomena; Galactose; Galactosemias; Galactosephosphates; Humans; Liver; Nucleotides | 1957 |
Demonstration of an accumulation of galactose-1-phosphate in the liver from congenital galactosemia.
Topics: Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Liver | 1962 |
Galactose-1-phosphate-uridyl-transferase in oligophrenic patients; with special reference to patients with Down's syndrome.
Topics: Down Syndrome; Galactosemias; Galactosephosphates; Glucosyltransferases; Humans; Intellectual Disability; Phosphotransferases | 1963 |
Galactose-1-phosphate in galactosemia.
Topics: Galactosemias; Galactosephosphates; Hexosephosphates; Humans | 1963 |
THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT.
Topics: Benzamides; Carrier State; Clinical Enzyme Tests; Erythrocytes; Galactokinase; Galactosemias; Galactosephosphates; Heterozygote; Humans; Phosphotransferases; Tyrosine; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; UTP-Hexose-1-Phosphate Uridylyltransferase | 1963 |
ERYTHROCYTIC GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE LEVELS IN HEPATIC CIRRHOSIS.
Topics: Clinical Enzyme Tests; Clinical Laboratory Techniques; Erythrocytes; Galactosemias; Galactosephosphates; Hepatolenticular Degeneration; Humans; Liver Cirrhosis; Liver Diseases; Nucleotidyltransferases; UDPglucose-Hexose-1-Phosphate Uridylyltransferase | 1964 |
GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN GALACTOSAEMIA.
Topics: Carbon Dioxide; Clinical Enzyme Tests; Erythrocytes; Galactose; Galactosemias; Galactosephosphates; Genetics, Medical; Humans; Leukocytes; Metabolism; Nucleotidyltransferases; UDPglucose-Hexose-1-Phosphate Uridylyltransferase | 1964 |
GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ASSAY BY USE OF RADIOACTIVE GALACTOSE-1-PHOSPHATE.
Topics: Biological Assay; Blood; Down Syndrome; Galactose; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Nucleotidyltransferases; UTP-Hexose-1-Phosphate Uridylyltransferase | 1964 |
Stable-isotope dilution analysis of galactose metabolites in human erythrocytes.
Topics: Blood Chemical Analysis; Erythrocytes; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Gas Chromatography-Mass Spectrometry; Humans; Isotope Labeling; Male; Metabolic Clearance Rate; Radioisotope Dilution Technique; Reproducibility of Results; Sensitivity and Specificity | 2003 |
Protective effect of L-cysteine and glutathione on the modulated suckling rat brain Na+, K+, -ATPase and Mg2+ -ATPase activities induced by the in vitro galactosaemia.
Topics: Animals; Animals, Suckling; Antioxidants; Brain; Brain Diseases, Metabolic, Inborn; Ca(2+) Mg(2+)-ATPase; Cysteine; Drug Combinations; Drug Evaluation, Preclinical; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Glutathione; Male; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase | 2004 |
High tolerance for oral galactose in classical galactosaemia: dietary implications.
Topics: Administration, Oral; Adolescent; Drug Tolerance; Female; Fruit; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Male; Vegetables | 2004 |
Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study.
Topics: Adolescent; Analysis of Variance; Arginine; Case-Control Studies; Child; Cognition; Female; Galactitol; Galactosemias; Galactosephosphates; Glutamine; Homozygote; Humans; Intelligence; Male; Mutation; Neuropsychological Tests; UTP-Hexose-1-Phosphate Uridylyltransferase | 2004 |
Mg2+-ATPase activity in suckling rat brain regions in galactosaemia in vitro. L-Cysteine and glutathione effects.
Topics: Animals; Animals, Suckling; Antioxidants; Brain; Ca(2+) Mg(2+)-ATPase; Cysteine; Drug Combinations; Enzyme Activation; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Glutathione; Male; Rats; Rats, Wistar | 2005 |
The effect of diet on total antioxidant status, erythrocyte membrane Na+,K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia.
Topics: Antioxidants; Ca(2+) Mg(2+)-ATPase; Child; Diet; Erythrocyte Membrane; Female; Galactosemias; Galactosephosphates; Humans; In Vitro Techniques; Male; Sodium-Potassium-Exchanging ATPase; Spectrophotometry | 2005 |
Galactosaemia: early treatment with an elemental formula.
Topics: Erythrocytes; Female; Food, Formulated; Galactose; Galactosemias; Galactosephosphates; Humans; Infant Formula; Infant, Newborn; Infant, Newborn, Diseases | 2005 |
Suckling rat brain regional distribution of Na+,K+-atpase activity in the in vitro galactosaemia: the effect of L-cysteine and glutathione.
Topics: Animals; Animals, Suckling; Antioxidants; Brain; Brain Chemistry; Cysteine; Disease Models, Animal; Enzyme Activation; Female; Free Radicals; Galactitol; Galactose; Galactosemias; Galactosephosphates; Glutathione; In Vitro Techniques; Male; Oxidative Stress; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Subcellular Fractions | 2005 |
Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model.
Topics: Environment; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Gene Expression Profiling; Humans; Models, Biological; Mutation; Oligonucleotide Array Sequence Analysis; Saccharomyces cerevisiae; UTP-Hexose-1-Phosphate Uridylyltransferase | 2005 |
Erythrocyte membrane acetylcholinesterase, Na+, K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia.
Topics: Acetylcholinesterase; Ca(2+) Mg(2+)-ATPase; Child; Erythrocyte Membrane; Galactose; Galactosemias; Galactosephosphates; Greece; Humans; Hydrolases; Sodium-Potassium-Exchanging ATPase | 2005 |
Two familial cases of high blood galactose of unknown aetiology.
Topics: Carbohydrate Metabolism, Inborn Errors; Cell Membrane; Chromosomes, Human, X; Family Health; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Lactose; Male | 2006 |
Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333W.
Topics: Adult; Breast Feeding; Female; Galactitol; Galactosemias; Galactosephosphates; Heterozygote; Humans; Pregnancy; Time Factors | 2007 |
Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia.
Topics: Female; Follow-Up Studies; Galactose; Galactosemias; Galactosephosphates; Humans; Infant Formula; Infant, Newborn; Male | 2008 |
The effect of diet on Paraoxonase 1/Arylesterase activities in patients with disorders of galactose metabolism.
Topics: Antioxidants; Apolipoprotein A-I; Aryldialkylphosphatase; Carboxylic Ester Hydrolases; Case-Control Studies; Child; Diet; Follow-Up Studies; Galactose; Galactosemias; Galactosephosphates; Humans; Lipids; Lipoproteins; Spectrophotometry | 2007 |
A pulsed amperometric detection method of galactose 1-phosphate for galactosemia diagnosis.
Topics: Adult; Anion Exchange Resins; Carbonates; Chromatography, High Pressure Liquid; Electrochemistry; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Male; Reproducibility of Results; Sensitivity and Specificity; Sodium Hydroxide | 2008 |
Diagnosis of inherited disorders of galactose metabolism.
Topics: Carbohydrate Metabolism, Inborn Errors; DNA Mutational Analysis; DNA Primers; Galactitol; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Genetics, Medical; Humans; Infant, Newborn; Neonatal Screening; Polymerase Chain Reaction; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase | 2008 |
Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity.
Topics: Adolescent; Adult; Child; Child, Preschool; Erythrocytes; Female; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Infant; Infant, Newborn; Male; Nucleotidyltransferases; Plasma; UDPglucose-Hexose-1-Phosphate Uridylyltransferase | 1982 |
Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation.
Topics: Biotransformation; Carbohydrate Epimerases; Dietary Carbohydrates; Erythrocytes; Female; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Infant, Newborn; UDPglucose 4-Epimerase; Uridine Diphosphate Galactose | 1983 |
Galactose and galactose-1-phosphate spot test for galactosemia screening.
Topics: Escherichia coli; Fluorescence; Galactose; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; NAD | 1981 |
A new method of screening for inherited disorders of galactose metabolism.
Topics: Bacteriophages; Escherichia coli; Galactose; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Infant, Newborn; Mass Screening; Microbiological Techniques; Mutation | 1982 |
A new microfluorometric method for the measurement of galactose-1-phosphate in erythrocytes.
Topics: Adolescent; Adult; Child; Child, Preschool; Erythrocytes; Female; Fluorometry; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Infant; Infant, Newborn; Male; Microchemistry; Reference Values | 1982 |
Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia.
Topics: Alkaline Phosphatase; Galactose; Galactose Dehydrogenases; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Infant; Methods | 1982 |
Microdetermination of galactose and galactose 1-phosphate in dried blood spots.
Topics: Adult; Autoanalysis; Drug Stability; Galactose; Galactosemias; Galactosephosphates; Hemoglobins; Hexosephosphates; Humans; Infant, Newborn; Microchemistry; Protein Denaturation; Substrate Specificity | 1981 |
Effect of glucose and galactose loading in normal subjects on red and white blood cell uridine diphosphate sugars.
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 |
Galactosaemia: relationship of IQ to biochemical control and genotype.
Topics: Adolescent; Brain Diseases, Metabolic; Child, Preschool; Female; Galactosemias; Galactosephosphates; Humans; Intelligence Tests; Mutation; Pregnancy; UDPglucose-Hexose-1-Phosphate Uridylyltransferase | 1995 |
In vivo study of brain metabolism in galactosemia by 1H and 31P magnetic resonance spectroscopy.
Topics: Adolescent; Adult; Brain; Female; Galactitol; Galactosemias; Galactosephosphates; Humans; Magnetic Resonance Spectroscopy; Male | 1995 |
Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.
Topics: Biopsy; Child; Galactosemias; Galactosephosphates; Homozygote; Humans; Male; Muscle Hypotonia; Muscle Proteins; Muscles; UTP-Hexose-1-Phosphate Uridylyltransferase | 1993 |
Long-term outcome in 134 patients with galactosaemia.
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 |
Ophthalmic findings in classical galactosaemia--prospective study.
Topics: Cataract; Child; Female; Galactosemias; Galactosephosphates; Humans; Lens, Crystalline; Male; Patient Compliance; Prospective Studies | 1993 |
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
Topics: Amino Acid Sequence; Base Sequence; Child; Child, Preschool; Female; Galactosemias; Galactosephosphates; Genes; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Polymerase Chain Reaction; UTP-Hexose-1-Phosphate Uridylyltransferase | 1996 |
Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia.
Topics: Alleles; Galactosemias; Galactosephosphates; Humans; Kinetics; Temperature; UDPglucose-Hexose-1-Phosphate Uridylyltransferase | 1997 |
Screening for galactosaemia in Greece.
Topics: Age Factors; Colorimetry; Galactosemias; Galactosephosphates; Greece; Heterozygote; Homozygote; Humans; Infant, Newborn; Neonatal Screening; Racemases and Epimerases | 1997 |
Defective galactosylation of serum transferrin in galactosemia.
Topics: Carbohydrate Sequence; Chromatography, High Pressure Liquid; Dietary Carbohydrates; Erythrocytes; Galactose; Galactosemias; Galactosephosphates; Glycosylation; Humans; Molecular Sequence Data; Molecular Structure; Polysaccharides; Transferrin; UDPglucose-Hexose-1-Phosphate Uridylyltransferase | 1998 |
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.
Topics: Adolescent; Female; Galactosemias; Galactosephosphates; Genetic Carrier Screening; Heterozygote; Humans; Infant, Newborn; Male; Mutation; Pedigree; Phenotype; Polymorphism, Genetic; Turkey; UTP-Hexose-1-Phosphate Uridylyltransferase | 1998 |
Biochemical monitoring of treatment for galactosaemia: biological variability in metabolite concentrations.
Topics: Adolescent; Adult; Child; Child, Preschool; Galactitol; Galactosemias; Galactosephosphates; Humans; Infant; Infant, Newborn | 1999 |
Transient galactosemia detected by neonatal mass screening.
Topics: Bile Acids and Salts; Developmental Disabilities; Erythrocytes; Female; Follow-Up Studies; Galactosemias; Galactosephosphates; Genetic Carrier Screening; Homozygote; Humans; Infant, Newborn; Liver Function Tests; Male; Neonatal Screening; Prognosis | 1999 |
Spontaneous pregnancy in a patient with classical galactosaemia.
Topics: Adult; Amniotic Fluid; Erythrocytes; Female; Galactitol; Galactosemias; Galactosephosphates; Heterozygote; Humans; Ovarian Diseases; Pregnancy; Pregnancy Complications; UTP-Hexose-1-Phosphate Uridylyltransferase | 1999 |
Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.
Topics: Amino Acid Substitution; Galactose; Galactosemias; Galactosephosphates; Gene Expression; Humans; Kinetics; Methionine; Saccharomyces cerevisiae; UDPglucose 4-Epimerase; Uridine Diphosphate N-Acetylgalactosamine; Valine | 2000 |
Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet.
Topics: Animals; Animals, Suckling; Brain; Carbon Dioxide; Carbon Radioisotopes; Diet; Erythrocytes; Galactosemias; Galactosephosphates; Gas Chromatography-Mass Spectrometry; Heterozygote; Homozygote; Kidney; Liver; Mice; Oxidation-Reduction; UTP-Hexose-1-Phosphate Uridylyltransferase | 2001 |
Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study.
Topics: Alkaline Phosphatase; Fructose; Galactose Dehydrogenases; Galactosemias; Galactosephosphates; Glucose; Hexosephosphates; Humans; Infant, Newborn; Infusions, Intravenous; Neonatal Screening; Reference Values; Retrospective Studies; Sensitivity and Specificity; Spectrometry, Mass, Electrospray Ionization | 2001 |
Erythrocyte galactose 1-phosphate quantified by isotope-dilution gas chromatography-mass spectrometry.
Topics: Adult; Child; Child, Preschool; Chromatography, Gas; Erythrocytes; Female; Galactosemias; Galactosephosphates; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Male; Middle Aged; Neonatal Screening; Quality Control; Reference Values; Reproducibility of Results; Sensitivity and Specificity; Sugar Phosphates | 2002 |
[Clinical and biochemical diagnosis of galactosemia among our cases].
Topics: Adult; Blood Glucose; Erythrocytes; Female; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Infant, Newborn; Male; Pedigree; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; UTP-Hexose-1-Phosphate Uridylyltransferase | 1979 |
Colorimetric determination of galactose and galactose-1-phosphate from dried blood.
Topics: Alkaline Phosphatase; Colorimetry; Dihydrolipoamide Dehydrogenase; Galactose Dehydrogenases; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; NAD; Neonatal Screening; Tetrazolium Salts | 1992 |
A study of galactose intolerance in human and rat liver in vivo by 31P magnetic resonance spectroscopy.
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 |
Long-term prognosis in galactosaemia: results of a survey of 350 cases.
Topics: Adolescent; Adult; Child; Child, Preschool; Developmental Disabilities; Female; Galactosemias; Galactosephosphates; Humans; Infant; Infant, Newborn; Intelligence; Male; Ovary; Prognosis; Sex Factors; Surveys and Questionnaires; Time Factors | 1990 |
Culture of galactosaemic fibroblasts in the presence of galactose: effect of inosine.
Topics: Cell Division; Cells, Cultured; Child, Preschool; Culture Media; Fibroblasts; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Inosine; UTP-Hexose-1-Phosphate Uridylyltransferase | 1990 |
Results of newborn screening for galactose metabolic disorders.
Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Galactosemias; Galactosephosphates; Genetic Carrier Screening; Humans; Infant, Newborn; Mass Screening; UDPglucose 4-Epimerase | 1990 |
Galactosaemia: sensitive bioluminescent assays for galactose and red cell galactose-1-phosphate.
Topics: Erythrocytes; Galactose; Galactosemias; Galactosephosphates; Humans; Luciferases; Luminescent Measurements | 1990 |
Deficit of uridine diphosphate galactose in galactosaemia.
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 |
Newborn screening for galactosemia: a new method used in Manitoba.
Topics: Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Manitoba; Mass Screening | 1989 |
Effect of lactation in a mother with galactosemia.
Topics: Adult; Female; Galactitol; Galactosemias; Galactosephosphates; Humans; Lactation; Milk, Human; Pregnancy; Puerperal Disorders | 1989 |
[Galactose 1-phosphate level in children with various types of hexosephosphate uridylyltransferase deficiency].
Topics: Child; Child, Preschool; Erythrocytes; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Infant; Infant, Newborn; Nucleotidyltransferases; UDPglucose-Hexose-1-Phosphate Uridylyltransferase | 1985 |
A patient with severe type of epimerase deficiency galactosaemia.
Topics: Carbohydrate Epimerases; Female; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; UDPglucose 4-Epimerase; Uridine Diphosphate Galactose | 1988 |
[Simple methods in the detection of galactose-1-phosphate and galactitol from samples on filter paper].
Topics: Galactitol; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Infant, Newborn; Mass Screening; Sugar Alcohols | 1987 |
Microassay for estimation of galactose and galactose-1-phosphate in dried blood specimens.
Topics: Alkaline Phosphatase; Blood Stains; Fluorometry; Galactose; Galactose Dehydrogenases; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Infant, Newborn; Microchemistry | 1986 |
Oral intake of glucose plus galactose and erythrocyte galactose-1-phosphate. A nutritional evaluation of hydrolyzed lactose.
Topics: Adult; Erythrocytes; Female; Galactose; Galactosemias; Galactosephosphates; Glucose; Glucose Solution, Hypertonic; Hexosephosphates; Humans; Male; Middle Aged; Risk | 1986 |
[Galactosemia of early diagnosis with psychomotor retardation].
Topics: Female; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Psychomotor Disorders; Time Factors | 1986 |
Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance.
Topics: Animals; Diet; Female; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Male; Maternal-Fetal Exchange; Milk; Pregnancy | 1985 |