n-acetylneuraminic acid and Carbohydrate-Deficient Glycoprotein Syndrome

n-acetylneuraminic acid has been researched along with Carbohydrate-Deficient Glycoprotein Syndrome in 11 studies

Research

Studies (11)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's5 (45.45)18.2507
2000's2 (18.18)29.6817
2010's1 (9.09)24.3611
2020's3 (27.27)2.80

Authors

AuthorsStudies
Enokizono, T; Haga, Y; Imoto, I; Kohmoto, T; Ohto, T; Okamoto, N; Seino, J; Suzuki, T; Wada, Y1
Fukami, M; Hishiyama, T; Ikeno, M; Imamura, M; Kadoya, M; Kashimada, K; Masunaga, Y; Nishimura, G; Oba, D; Ogata, T; Ohashi, H; Okamoto, N; Saitsu, H; Sakamoto, Y; Takahashi, K; Wada, Y1
Brands, MM; Coene, KLM; de Boer, L; den Hollander, B; Haaxma, CA; Klein, WM; Kwast, HJT; Lefeber, DJ; Lengyel, A; Peters, G; van Essen, P; van Karnebeek, CDM1
Baycin-Hizal, D; Betenbaugh, MJ; Gottschalk, A; Jacobson, E; Krag, SS; Mai, S; Wolozny, D; Zhang, H1
Bakker, JA; Jaeken, J; Sijstermans, HJ; Spaapen, LJ; Steet, RA; van der Meer, SB; Wevers, RA1
Brantly, M; Gahl, WA; Holt, GD; Krasnewich, DM; Redwine, J; Skovby, F1
Dwek, RA; Iourin, O; Keir, G; Mattu, TS; Mian, N; Rudd, PM; Winchester, B1
Abdelatty, F; Bergmann, M; Gross, HJ; Jaeken, J; Möller, P; Schwartz-Albiez, R1
Carchon, H; Jaeken, J; Matthijs, G; Van Schaftingen, E1
Ferens-Sieczkowska, M; Katnik-Prastowska, I; Midro, A; Mierzejewska-Iwanowska, B; Zwierz, K1
Jaeken, J; Kościelak, J; Musielak, M; Zdebska, E1

Reviews

2 review(s) available for n-acetylneuraminic acid and Carbohydrate-Deficient Glycoprotein Syndrome

ArticleYear
Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.
    Biochemical and biophysical research communications, 2014, Oct-17, Volume: 453, Issue:2

    Topics: Aging; Animals; Congenital Disorders of Glycosylation; Glycosylation; Growth and Development; Humans; Ion Channel Gating; Ion Channels; Models, Biological; Mutation; N-Acetylneuraminic Acid; Potassium Channels

2014
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
    Biochimica et biophysica acta, 1999, Oct-08, Volume: 1455, Issue:2-3

    Topics: Animals; Biomarkers; Congenital Disorders of Glycosylation; Glycoproteins; Humans; Isoelectric Focusing; Mannose-6-Phosphate Isomerase; Mutation; N-Acetylneuraminic Acid; Phosphotransferases (Phosphomutases); Transferrin

1999

Other Studies

9 other study(ies) available for n-acetylneuraminic acid and Carbohydrate-Deficient Glycoprotein Syndrome

ArticleYear
Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.
    Cells, 2021, 11-10, Volume: 10, Issue:11

    Topics: Adolescent; Amino Acid Sequence; Base Sequence; Blood Proteins; Child; Child, Preschool; Congenital Disorders of Glycosylation; Exome Sequencing; Female; Humans; Infant; Infant, Newborn; Lymphocytes; Male; Mannosidases; Microsomes; N-Acetylneuraminic Acid; Pedigree; Polysaccharides; Siblings; Spectrometry, Mass, Electrospray Ionization

2021
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).
    Scientific reports, 2022, 10-12, Volume: 12, Issue:1

    Topics: Congenital Disorders of Glycosylation; Glycosylation; Humans; Infant; Infant, Newborn; Japan; Ligases; N-Acetylneuraminic Acid; RNA, Messenger

2022
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
    Journal of inherited metabolic disease, 2023, Volume: 46, Issue:5

    Topics: Animals; Congenital Disorders of Glycosylation; Dietary Supplements; Humans; N-Acetylneuraminic Acid; Pilot Projects; Zebrafish

2023
Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5

    Topics: Apolipoprotein C-III; Apolipoproteins C; Carbohydrate Metabolism, Inborn Errors; Congenital Disorders of Glycosylation; Family Health; Female; Fibroblasts; Glycoproteins; Glycosylation; Golgi Apparatus; Humans; Isoelectric Focusing; Leukocytes; Liver; Lysosomes; Male; N-Acetylneuraminic Acid; Protein Isoforms; Siblings; Transferrin

2005
Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome.
    Glycobiology, 1995, Volume: 5, Issue:5

    Topics: Congenital Disorders of Glycosylation; Dolichols; Electrophoresis, Polyacrylamide Gel; Female; Fibroblasts; Glycosylation; Humans; Infant; Isoelectric Focusing; Male; Mannose; Monosaccharides; N-Acetylneuraminic Acid; Oligosaccharides; Phosphorylation; Sialic Acids

1995
The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type I by capillary zone electrophoresis.
    Glycoconjugate journal, 1996, Volume: 13, Issue:6

    Topics: beta-Galactosidase; Carbohydrates; Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation; Electrophoresis, Capillary; Glycoside Hydrolases; Humans; N-Acetylneuraminic Acid; Neuraminidase; Polysaccharides; Sensitivity and Specificity; Transferrin

1996
Abnormal surface expression of sialoglycans on B lymphocyte cell lines from patients with carbohydrate deficient glycoprotein syndrome I A (CDGS I A).
    Glycobiology, 1998, Volume: 8, Issue:10

    Topics: B-Lymphocytes; Cell Differentiation; Cell Line, Transformed; Cell Membrane; Congenital Disorders of Glycosylation; Glycosylation; Humans; N-Acetylneuraminic Acid; Polysaccharides; Sialyltransferases; Tumor Cells, Cultured

1998
Haptoglobin glycoforms in a case of carbohydrate-deficient glycoprotein syndrome.
    Glycoconjugate journal, 1999, Volume: 16, Issue:10

    Topics: Adolescent; Amidohydrolases; Blotting, Western; Child; Congenital Disorders of Glycosylation; Electrophoresis, Polyacrylamide Gel; Female; Fucose; Glycosylation; Haptoglobins; Humans; Infant; Lectins; Molecular Weight; N-Acetylneuraminic Acid; Neuraminidase; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Poland; Polysaccharides; Protein Binding; Protein Isoforms

1999
Band 3 glycoprotein and glycophorin A from erythrocytes of children with congenital disorder of glycosylation type-Ia are underglycosylated.
    Proteomics, 2001, Volume: 1, Issue:2

    Topics: Anion Exchange Protein 1, Erythrocyte; Carbohydrate Sequence; Carbohydrates; Case-Control Studies; Child; Child, Preschool; Congenital Disorders of Glycosylation; Electrophoresis, Polyacrylamide Gel; Erythrocyte Membrane; Glycophorins; Glycosylation; Humans; Infant; Molecular Sequence Data; N-Acetylneuraminic Acid; Proteome; Sodium Dodecyl Sulfate

2001