Page last updated: 2024-08-17

nadp and CBS Deficiency

nadp has been researched along with CBS Deficiency in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (50.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Baumgartner, MR; Burda, P; Fowler, B; Froese, DS; Heuberger, D; Schäfer, A; Suormala, T1
Banerjee, R; Gherasim, CG; Raza, A; Zaman, U1

Other Studies

2 other study(ies) available for nadp and CBS Deficiency

ArticleYear
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
    Journal of inherited metabolic disease, 2017, Volume: 40, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Catalytic Domain; Fibroblasts; Genotype; Homocystinuria; Humans; Hyperhomocysteinemia; Kinetics; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Mutant Proteins; Mutation, Missense; NADP; Polymorphism, Single Nucleotide; Psychotic Disorders; Tetrahydrofolates

2017
Impeded electron transfer from a pathogenic FMN domain mutant of methionine synthase reductase and its responsiveness to flavin supplementation.
    Biochemistry, 2008, Nov-25, Volume: 47, Issue:47

    Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Sequence; Animals; Cytochromes c; Deuterium Exchange Measurement; Dietary Supplements; Electron Transport; Enzyme Activation; Ferredoxin-NADP Reductase; Flavin Mononucleotide; Flavins; Homocystinuria; Humans; Kinetics; Molecular Sequence Data; Mutant Proteins; Mutation; NADH, NADPH Oxidoreductases; NADP; Protein Conformation; Protein Structure, Tertiary; Quinone Reductases; Riboflavin; Swine

2008