Page last updated: 2024-08-17

nad and Classic Galactosemia

nad has been researched along with Classic Galactosemia in 18 studies

Research

Studies (18)

TimeframeStudies, this research(%)All Research%
pre-19909 (50.00)18.7374
1990's6 (33.33)18.2507
2000's0 (0.00)29.6817
2010's2 (11.11)24.3611
2020's1 (5.56)2.80

Authors

AuthorsStudies
Doss, CGP; Kumar, DT; Kumar, SU; Sankar, S; Siva, R; Younes, N; Younes, S; Zayed, H1
Beerens, K; Desmet, T; Soetaert, W1
Frazer, A; Fridovich-Keil, JL; Gleason, TJ; Liu, Y; McCorvie, TJ; Timson, DJ1
Kawakami, M; Misuma, H; Ninomiya, H; Shohmori, T; Wada, H1
Alano, A; Almashanu, S; Cowan, TM; DeSandro, AM; Fridovich-Keil, JL; Quimby, BB1
Christacos, NC; Fridovich-Keil, JL; Harreman, MT; Wohlers, TM1
Akerlind, G; Tuuminen, T1
Bock, D; Diepenbrock, F; Engelhard, T; Heckler, R; Sander, J; Schickling, H1
Kirkman, HN1
Angus, PW; Collins, JE; Dixon, RM; Kalderon, B; Leonard, JV; Oberhaensli, RD; Radda, GK; Rajagopalan, B1
Dickerson, JE; Garadi, R; Lou, MF; York, BM1
Beutler, E1
Benson, PF; Blunt, S; Fensom, AH1
GrĂ¼mer, HD1
McIntyre, JP; Schlichter, DJ; Spieker, SE; Wacholtz, MC; Wells, WW1
Schmidt, FH; Stork, G; Stork, H; Teuber, C1
Cohn, RM; Segal, S1
Grenier, A; Laberge, C1

Reviews

2 review(s) available for nad and Classic Galactosemia

ArticleYear
UDP-hexose 4-epimerases: a view on structure, mechanism and substrate specificity.
    Carbohydrate research, 2015, Sep-23, Volume: 414

    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.
    Metabolism: clinical and experimental, 1973, Volume: 22, Issue:4

    Topics: Animals; Carbon Dioxide; Carbon Isotopes; Chickens; Disease Models, Animal; Erythrocytes; Galactose; Galactosemias; Humans; Isomerases; Liver; NAD; Phosphotransferases; Racial Groups; Uracil Nucleotides

1973

Other Studies

16 other study(ies) available for nad and Classic Galactosemia

ArticleYear
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.
    Cell biochemistry and biophysics, 2021, Volume: 79, Issue:2

    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.
    Biochimica et biophysica acta, 2012, Volume: 1822, Issue:10

    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.
    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
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
    American journal of human genetics, 1997, Volume: 61, Issue:3

    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.
    American journal of human genetics, 1999, Volume: 64, Issue:2

    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?
    Clinica chimica acta; international journal of clinical chemistry, 1992, Nov-30, Volume: 212, Issue:3

    Topics: Galactosemias; Humans; Infant, Newborn; Kinetics; NAD; Neonatal Screening; Spectrometry, Fluorescence

1992
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
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
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
Glutathione depletion in the lens of galactosemic and diabetic rats.
    Experimental eye research, 1988, Volume: 46, Issue:4

    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.
    Biochimie, 1972, Volume: 54, Issue:5

    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.
    British medical journal, 1974, Nov-16, Volume: 4, Issue:5941

    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].
    Zeitschrift fur klinische Chemie und klinische Biochemie, 1966, Volume: 4, Issue:3

    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.
    Annals of the New York Academy of Sciences, 1969, Oct-17, Volume: 165, Issue:2

    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)].
    Klinische Wochenschrift, 1970, Jan-01, Volume: 48, Issue:1

    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.
    Clinical chemistry, 1973, Volume: 19, Issue:5

    Topics: Autoanalysis; Drug Stability; False Positive Reactions; Fluorometry; Galactosemias; Humans; Mass Screening; Metabolism, Inborn Errors; Methods; NAD; Phosphotransferases

1973