Page last updated: 2024-08-23

transferrin and Genetic Diseases

transferrin has been researched along with Genetic Diseases in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19901 (14.29)18.7374
1990's1 (14.29)18.2507
2000's5 (71.43)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
del Castillo Busto, ME; Meija, J; Montes-Bayón, M; Sanz-Medel, A1
de Koning, T; Dorland, B; Körner, C; Lehle, L; Lübbehusen, J; Schwarz, M; Thiel, C; von Figura, K1
Freeze, HH1
Berger, R; Boonman, AM; de Jong, GJ; de Koning, TJ; De Schryver, J; Dorland, L; Duran, M; Gerwig, GJ; Poll-The, BT; van den Berg, IE; van Diggelen, OP; van Noort, WL1
Bacon, BR; Britton, RS; Costaldi, ME; Fleming, RE; Grubb, JH; Sly, WS; Tomatsu, S; Waheed, A; Zhou, XY1
Grieben, U; Hanefeld, F; Hasilik, M; Körner, C; Lehle, L; Schwarz, M; Thiel, C; von Figura, K1
Mourant, AE1

Reviews

1 review(s) available for transferrin and Genetic Diseases

ArticleYear
Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond.
    Current molecular medicine, 2007, Volume: 7, Issue:4

    Topics: Blood Coagulation Disorders; Genetic Diseases, Inborn; Glycosylation; Humans; Hypoglycemia; Protein Modification, Translational; Transferrin

2007

Other Studies

6 other study(ies) available for transferrin and Genetic Diseases

ArticleYear
Diophantine analysis complements electrospray-Q-TOF data for structure elucidation of transferrin glycoforms used for clinical diagnosis in human serum and cerebrospinal fluid.
    Proteomics, 2009, Volume: 9, Issue:4

    Topics: Alcoholism; Biomarkers; Genetic Diseases, Inborn; Humans; Models, Theoretical; Molecular Weight; Polysaccharides; Protein Isoforms; Spectrometry, Mass, Electrospray Ionization; Transferrin

2009
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.
    American journal of human genetics, 2004, Volume: 74, Issue:3

    Topics: DNA Mutational Analysis; Genetic Diseases, Inborn; Glycosylation; Humans; Mannosyltransferases; Mutation, Missense; Oligosaccharides; Saccharomyces cerevisiae; Transferrin

2004
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.
    Biochemical and biophysical research communications, 1998, Apr-07, Volume: 245, Issue:1

    Topics: Adolescent; Child; Congenital Disorders of Glycosylation; Female; Fructose; Genetic Diseases, Inborn; Glucose; Glycosylation; Humans; Male; Mannose; Mannose-6-Phosphate Isomerase; Phosphotransferases (Phosphomutases); Transferrin

1998
Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis.
    Proceedings of the National Academy of Sciences of the United States of America, 2002, Mar-05, Volume: 99, Issue:5

    Topics: Animals; beta 2-Microglobulin; Cell Membrane; CHO Cells; Cricetinae; Endocytosis; Genetic Diseases, Inborn; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; HLA Antigens; Humans; Iron; Major Histocompatibility Complex; Membrane Proteins; Mice; Receptors, Transferrin; Transferrin

2002
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.
    The Biochemical journal, 2002, Oct-01, Volume: 367, Issue:Pt 1

    Topics: Chromatography, High Pressure Liquid; DNA Mutational Analysis; DNA, Complementary; Electrophoresis, Polyacrylamide Gel; Endoplasmic Reticulum; Female; Fibroblasts; Genetic Complementation Test; Genetic Diseases, Inborn; Glycosylation; Humans; Isoelectric Focusing; Mannosyltransferases; Mutagenesis, Site-Directed; Oligosaccharides; Phenotype; Point Mutation; Retroviridae; Transferrin

2002
Associations between hereditary blood factors and diseases.
    Bulletin of the World Health Organization, 1973, Volume: 49, Issue:1

    Topics: Anemia, Sickle Cell; Blood Group Antigens; Choriocarcinoma; Erythroblastosis, Fetal; Female; Gene Frequency; Genetic Diseases, Inborn; Genetics, Population; Glucosephosphate Dehydrogenase Deficiency; Goiter; Haptoglobins; Humans; Infant, Newborn; Male; Molecular Biology; Mutation; Peptic Ulcer; Polymorphism, Genetic; Pregnancy; Smallpox; Stomach Neoplasms; Taste Disorders; Thalassemia; Thromboembolism; Transferrin; Vaccinia

1973