Page last updated: 2024-09-03

galactose-1-phosphate and Classic Galactosemia

galactose-1-phosphate has been researched along with Classic Galactosemia in 98 studies

Research

Studies (98)

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

Authors	Studies
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

Reviews

5 review(s) available for galactose-1-phosphate and Classic Galactosemia

Article	Year
Galactose toxicity in animals. IUBMB life, 2009, Volume: 61, Issue:11 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. IUBMB life, 2011, Volume: 63, Issue:9 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? Molecular genetics and metabolism, 2012, Volume: 106, Issue:1 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. 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
Galactose-1-phosphate in the pathophysiology of galactosemia. European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2 Topics: Galactose; Galactosemias; Galactosephosphates; Glucose; Humans; Infant, Newborn; Phosphorylation	1995

Trials

2 trial(s) available for galactose-1-phosphate and Classic Galactosemia

Article	Year
Verbal dyspraxia and galactosemia. Pediatric research, 2003, Volume: 53, Issue:3 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. European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2 Topics: Adult; Child; Fabaceae; Female; Galactose; Galactosemias; Galactosephosphates; Humans; Oligosaccharides; Plants, Medicinal; Raffinose	1995

Other Studies

91 other study(ies) available for galactose-1-phosphate and Classic Galactosemia

Article	Year
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia. Journal of inherited metabolic disease, 2023, Volume: 46, Issue:2 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. Journal of inherited metabolic disease, 2023, Volume: 46, Issue:6 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. Molecular therapy : the journal of the American Society of Gene Therapy, 2020, 01-08, Volume: 28, Issue:1 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. Journal of inherited metabolic disease, 2020, Volume: 43, Issue:3 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. Journal of inherited metabolic disease, 2020, Volume: 43, Issue:3 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. Computers in biology and medicine, 2020, Volume: 117 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. Advances in clinical and experimental medicine : official organ Wroclaw Medical University, 2020, Volume: 29, Issue:4 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. Journal of inherited metabolic disease, 2018, Volume: 41, Issue:2 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. Molecular genetics and metabolism, 2018, Volume: 125, Issue:3 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. Journal of inherited metabolic disease, 2014, Volume: 37, Issue:1 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. Experimental biology and medicine (Maywood, N.J.), 2013, Volume: 238, Issue:7 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. Disease models & mechanisms, 2014, Volume: 7, Issue:1 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. Clinica chimica acta; international journal of clinical chemistry, 2015, Jun-15, Volume: 446 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. Disease models & mechanisms, 2016, 11-01, Volume: 9, Issue:11 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. European journal of pediatrics, 2009, Volume: 168, Issue:6 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. Clinical chemistry, 2008, Volume: 54, Issue:12 Topics: Adult; Anion Exchange Resins; Blood Specimen Collection; Chromatography, Ion Exchange; Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn	2008
Outcomes of siblings with classical galactosemia. The Journal of pediatrics, 2009, Volume: 154, Issue:5 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. Clinical chemistry, 2010, Volume: 56, Issue:5 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. Clinical chemistry, 2010, Volume: 56, Issue:5 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? Clinical chemistry, 2010, Volume: 56, Issue:7 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. Clinical chemistry, 2010, Volume: 56, Issue:7 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. Scandinavian journal of clinical and laboratory investigation, 2012, Volume: 72, Issue:1 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. Disease models & mechanisms, 2012, Volume: 5, Issue:6 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. Disease models & mechanisms, 2013, Volume: 6, Issue:1 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? Medical hypotheses, 2003, Volume: 60, Issue:1 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. Science (New York, N.Y.), 1957, Jan-18, Volume: 125, Issue:3238 Topics: Biochemical Phenomena; Galactose; Galactosemias; Galactosephosphates; Humans; Liver; Nucleotides	1957
Demonstration of an accumulation of galactose-1-phosphate in the liver from congenital galactosemia. The Tohoku journal of experimental medicine, 1962, Oct-25, Volume: 78 Topics: Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Liver	1962
Galactose-1-phosphate-uridyl-transferase in oligophrenic patients; with special reference to patients with Down's syndrome. Danish medical bulletin, 1963, Volume: 10 Topics: Down Syndrome; Galactosemias; Galactosephosphates; Glucosyltransferases; Humans; Intellectual Disability; Phosphotransferases	1963
Galactose-1-phosphate in galactosemia. Pediatrics, 1963, Volume: 31 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. The Journal of experimental medicine, 1963, Sep-01, Volume: 118 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. Gut, 1964, Volume: 5 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. Nature, 1964, Aug-22, Volume: 203 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. Clinica chimica acta; international journal of clinical chemistry, 1964, Volume: 10 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. Rapid communications in mass spectrometry : RCM, 2003, Volume: 17, Issue:24 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. Pharmacological research, 2004, Volume: 49, Issue:5 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. Archives of disease in childhood, 2004, Volume: 89, Issue:11 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. Neuropsychology, 2004, Volume: 18, Issue:4 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. Toxicology in vitro : an international journal published in association with BIBRA, 2005, Volume: 19, Issue:2 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. Clinical nutrition (Edinburgh, Scotland), 2005, Volume: 24, Issue:1 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. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:2 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. Metabolic brain disease, 2005, Volume: 20, Issue:1 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. Molecular genetics and metabolism, 2005, Volume: 86, Issue:3 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. Acta paediatrica (Oslo, Norway : 1992), 2005, Volume: 94, Issue:9 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. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:6 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. Journal of inherited metabolic disease, 2007, Volume: 30, Issue:1 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. European journal of pediatrics, 2008, Volume: 167, Issue:5 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. Clinical endocrinology, 2007, Volume: 67, Issue:5 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. Analytical biochemistry, 2008, May-15, Volume: 376, Issue:2 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. Current protocols in human genetics, 2008, Volume: Chapter 17 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. Clinical chemistry, 1982, Volume: 28, Issue:2 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. 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
Galactose and galactose-1-phosphate spot test for galactosemia screening. Clinica chimica acta; international journal of clinical chemistry, 1981, Mar-19, Volume: 111, Issue:1 Topics: Escherichia coli; Fluorescence; Galactose; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; NAD	1981
A new method of screening for inherited disorders of galactose metabolism. The Journal of laboratory and clinical medicine, 1982, Volume: 99, Issue:6 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. Clinica chimica acta; international journal of clinical chemistry, 1982, Feb-05, Volume: 118, Issue:2-3 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. The Tohoku journal of experimental medicine, 1982, Volume: 137, Issue:3 Topics: Alkaline Phosphatase; Galactose; Galactose Dehydrogenases; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Infant; Methods	1982
Microdetermination of galactose and galactose 1-phosphate in dried blood spots. Analytical biochemistry, 1981, Volume: 117, Issue:1 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. 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
Galactosaemia: relationship of IQ to biochemical control and genotype. Journal of inherited metabolic disease, 1995, Volume: 18, Issue:2 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. European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2 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. Journal of neurology, 1993, Volume: 240, Issue:5 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. 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
Ophthalmic findings in classical galactosaemia--prospective study. The British journal of ophthalmology, 1993, Volume: 77, Issue:3 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. European journal of pediatrics, 1996, Volume: 155, Issue:5 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. Journal of inherited metabolic disease, 1997, Volume: 20, Issue:5 Topics: Alleles; Galactosemias; Galactosephosphates; Humans; Kinetics; Temperature; UDPglucose-Hexose-1-Phosphate Uridylyltransferase	1997
Screening for galactosaemia in Greece. Paediatric and perinatal epidemiology, 1997, Volume: 11, Issue:4 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. Glycobiology, 1998, Volume: 8, Issue:4 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. Journal of molecular medicine (Berlin, Germany), 1998, Volume: 76, Issue:10 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. Journal of inherited metabolic disease, 1999, Volume: 22, Issue:2 Topics: Adolescent; Adult; Child; Child, Preschool; Galactitol; Galactosemias; Galactosephosphates; Humans; Infant; Infant, Newborn	1999
Transient galactosemia detected by neonatal mass screening. Pediatrics international : official journal of the Japan Pediatric Society, 1999, Volume: 41, Issue:3 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. Journal of inherited metabolic disease, 1999, Volume: 22, Issue:6 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. Journal of inherited metabolic disease, 2000, Volume: 23, Issue:7 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. Molecular genetics and metabolism, 2001, Volume: 72, Issue:4 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. Clinical chemistry, 2001, Volume: 47, Issue:8 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. Clinical chemistry, 2002, Volume: 48, Issue:4 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]. Problemy medycyny wieku rozwojowego, 1979, Volume: 8 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. Clinical biochemistry, 1992, Volume: 25, Issue:1 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. 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
Long-term prognosis in galactosaemia: results of a survey of 350 cases. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:6 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. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:6 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. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:1 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. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:3 Topics: Erythrocytes; Galactose; Galactosemias; Galactosephosphates; Humans; Luciferases; Luminescent Measurements	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
Newborn screening for galactosemia: a new method used in Manitoba. Pediatrics, 1989, Volume: 84, Issue:2 Topics: Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Manitoba; Mass Screening	1989
Effect of lactation in a mother with galactosemia. The Journal of pediatrics, 1989, Volume: 115, Issue:2 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]. Pediatria polska, 1985, Volume: 60, Issue:9 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. 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
[Simple methods in the detection of galactose-1-phosphate and galactitol from samples on filter paper]. Kinderarztliche Praxis, 1987, Volume: 55, Issue:5 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. Clinical biochemistry, 1986, Volume: 19, Issue:4 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. Zeitschrift fur Ernahrungswissenschaft, 1986, Volume: 25, Issue:3 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]. Anales espanoles de pediatria, 1986, Volume: 25, Issue:4 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. The Journal of pediatrics, 1985, Volume: 107, Issue:2 Topics: Animals; Diet; Female; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Male; Maternal-Fetal Exchange; Milk; Pregnancy	1985