nad has been researched along with Classic Galactosemia in 18 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 9 (50.00) | 18.7374 |
| 1990's | 6 (33.33) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 2 (11.11) | 24.3611 |
| 2020's | 1 (5.56) | 2.80 |
| Authors | Studies |
|---|---|
| Doss, CGP; Kumar, DT; Kumar, SU; Sankar, S; Siva, R; Younes, N; Younes, S; Zayed, H | 1 |
| Beerens, K; Desmet, T; Soetaert, W | 1 |
| Frazer, A; Fridovich-Keil, JL; Gleason, TJ; Liu, Y; McCorvie, TJ; Timson, DJ | 1 |
| Kawakami, M; Misuma, H; Ninomiya, H; Shohmori, T; Wada, H | 1 |
| Alano, A; Almashanu, S; Cowan, TM; DeSandro, AM; Fridovich-Keil, JL; Quimby, BB | 1 |
| Christacos, NC; Fridovich-Keil, JL; Harreman, MT; Wohlers, TM | 1 |
| Akerlind, G; Tuuminen, T | 1 |
| Bock, D; Diepenbrock, F; Engelhard, T; Heckler, R; Sander, J; Schickling, H | 1 |
| Kirkman, HN | 1 |
| Angus, PW; Collins, JE; Dixon, RM; Kalderon, B; Leonard, JV; Oberhaensli, RD; Radda, GK; Rajagopalan, B | 1 |
| Dickerson, JE; Garadi, R; Lou, MF; York, BM | 1 |
| Beutler, E | 1 |
| Benson, PF; Blunt, S; Fensom, AH | 1 |
| Grümer, HD | 1 |
| McIntyre, JP; Schlichter, DJ; Spieker, SE; Wacholtz, MC; Wells, WW | 1 |
| Schmidt, FH; Stork, G; Stork, H; Teuber, C | 1 |
| Cohn, RM; Segal, S | 1 |
| Grenier, A; Laberge, C | 1 |
2 review(s) available for nad and Classic Galactosemia
| Article | Year |
|---|---|
UDP-hexose 4-epimerases: a view on structure, mechanism and substrate specificity.
Topics: Crystallography, X-Ray; Galactosemias; Humans; Models, Molecular; Mutation; NAD; Protein Structure, Tertiary; Substrate Specificity; UDPglucose 4-Epimerase; Uracil Nucleotides | 2015 |
Galactose metabolism and its regulation.
Topics: Animals; Carbon Dioxide; Carbon Isotopes; Chickens; Disease Models, Animal; Erythrocytes; Galactose; Galactosemias; Humans; Isomerases; Liver; NAD; Phosphotransferases; Racial Groups; Uracil Nucleotides | 1973 |
16 other study(ies) available for nad and Classic Galactosemia
| Article | Year |
|---|---|
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.
Topics: Amino Acid Sequence; Binding Sites; Biocatalysis; Databases, Protein; Galactosemias; Humans; Molecular Docking Simulation; Molecular Dynamics Simulation; Mutation, Missense; NAD; Protein Conformation, alpha-Helical; Protein Conformation, beta-Strand; Protein Stability; Substrate Specificity; UDPglucose 4-Epimerase | 2021 |
Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
Topics: Alleles; Coenzymes; Escherichia coli; Fungal Proteins; Galactose; Galactosemias; Humans; Kinetics; Models, Molecular; NAD; Peptide Hydrolases; Protein Binding; Protein Denaturation; Protein Multimerization; Protein Structure, Secondary; Recombinant Proteins; Structure-Activity Relationship; UDPglucose 4-Epimerase; Uridine Diphosphate N-Acetylglucosamine; Yeasts | 2012 |
Galactose and galactose-1-phosphate spot test for galactosemia screening.
Topics: Escherichia coli; Fluorescence; Galactose; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; NAD | 1981 |
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
Topics: Alleles; Cell Line, Transformed; Child, Preschool; Erythrocytes; Female; Galactosemias; Gene Expression; Humans; Kinetics; Lymphocytes; Male; NAD; Pedigree; Point Mutation; Recombinant Proteins; Saccharomyces cerevisiae; UDPglucose 4-Epimerase | 1997 |
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
Topics: Alleles; Amino Acid Substitution; Enzyme Stability; Female; Galactosemias; Gene Expression Regulation; Homozygote; Humans; Male; Methionine; Mutation; NAD; Pedigree; UDPglucose 4-Epimerase; Uridine Diphosphate N-Acetylgalactosamine; Valine; Yeasts | 1999 |
Kinetic fluorometric micromethod for screening of newborns for galactosemia--a way to improve assay specificity?
Topics: Galactosemias; Humans; Infant, Newborn; Kinetics; NAD; Neonatal Screening; Spectrometry, Fluorescence | 1992 |
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 |
Erythrocytic uridine diphosphate galactose in galactosaemia.
Topics: Adult; Blood Chemical Analysis; Child; Child, Preschool; Erythrocytes; Female; Galactosemias; Humans; Male; NAD; Uridine; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose | 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 |
Glutathione depletion in the lens of galactosemic and diabetic rats.
Topics: Aldehyde Reductase; Aminoisobutyric Acids; Animals; Cell Membrane Permeability; Diabetes Mellitus, Experimental; Fluorenes; Galactitol; Galactosemias; Glutathione; Glutathione Reductase; Hydantoins; Lens, Crystalline; Male; NAD; NADP; Rats; Rats, Inbred Strains; Sorbitol | 1988 |
Red cell metabolism. A. Defects not causing hemolytic disease. B. Environmental modification.
Topics: Catalase; Cholinesterases; Clinical Enzyme Tests; Erythrocytes; Flavin-Adenine Dinucleotide; Galactosemias; Glucosephosphate Dehydrogenase Deficiency; Glutathione Reductase; Humans; L-Lactate Dehydrogenase; Lesch-Nyhan Syndrome; Metabolism, Inborn Errors; NAD; NADP; Nicotinic Acids; Pyridoxine; Riboflavin | 1972 |
Prenatal diagnosis of galactosaemia.
Topics: Amniocentesis; Amniotic Fluid; Carbon Radioisotopes; Cells, Cultured; Female; Galactose; Galactosemias; Hexosephosphates; Humans; NAD; NADP; Nucleotidyltransferases; Pregnancy; Prenatal Diagnosis | 1974 |
[Metabolically conditioned forms of imbecility and their diagnosis. II. Galactosemia].
Topics: Carbon Dioxide; Carbon Isotopes; Chemistry, Clinical; Galactose; Galactosemias; Heterozygote; Hexosephosphates; Humans; Leukocytes; Manometry; Molecular Biology; NAD; Nucleotidyltransferases; Spectrophotometry; Uracil Nucleotides | 1966 |
Studies on myo-inositol metabolism in galactosemia.
Topics: Adenosine Triphosphate; Aging; Alcohols; Alkaline Phosphatase; Animals; Brain; Carbon Isotopes; Dietary Carbohydrates; Galactose; Galactosemias; Glucose; Glucosephosphate Dehydrogenase; Hexokinase; Hexosephosphates; Inositol; Microsomes; NAD; Phosphoric Monoester Hydrolases; Rats; Time Factors | 1969 |
[Enzymatic galactose determination without deproteinization and centrifugation in very small blood samples (10 mul)].
Topics: Blood Glucose; Child; Galactose; Galactosemias; Humans; Methods; NAD; Oxidoreductases | 1970 |
Rapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper.
Topics: Autoanalysis; Drug Stability; False Positive Reactions; Fluorometry; Galactosemias; Humans; Mass Screening; Metabolism, Inborn Errors; Methods; NAD; Phosphotransferases | 1973 |