Compounds > acetylglucosamine
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acetylglucosamine and Cherry Red Spot Myoclonus Syndrome

acetylglucosamine has been researched along with Cherry Red Spot Myoclonus Syndrome in 10 studies

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19907 (70.00)18.7374
1990's1 (10.00)18.2507
2000's1 (10.00)29.6817
2010's1 (10.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Flanagan-Steet, H; Kornfeld, SA; Qian, Y; Steet, R; van Meel, E1
Leroy, JG1
O'Brien, JS; Warner, TG1
Borud, O; Lie, SO; Strömme, JH; Torp, KH1
Maury, P1
Kärkkäinen, J; Maury, P1
Donato, SD; Herschkowitz, N; Rossi, E; Wiesmann, UN1
Apiou, J; Bonnaure-Mallet, M; Goasguen, J; Jezequel, C; Loiseau-Corvez, MN1
An, SH; Jain, RK; Madiyalakan, R; Matta, KL1
Kornfeld, S; Sly, WS1

Reviews

1 review(s) available for acetylglucosamine and Cherry Red Spot Myoclonus Syndrome

ArticleYear
Genetic defects in glycoprotein metabolism.
    Annual review of genetics, 1983, Volume: 17

    Topics: Acetylglucosamine; Carbohydrate Metabolism, Inborn Errors; Gangliosidoses; Glycoproteins; Humans; Mannosides; Metabolism, Inborn Errors; Mucolipidoses; Oligosaccharides; Sialic Acids

1983

Other Studies

9 other study(ies) available for acetylglucosamine and Cherry Red Spot Myoclonus Syndrome

ArticleYear
The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module.
    Proceedings of the National Academy of Sciences of the United States of America, 2013, Jun-18, Volume: 110, Issue:25

    Topics: Abnormalities, Multiple; Acetylglucosamine; Animals; Female; HEK293 Cells; HeLa Cells; Humans; Hydrolases; Lysosomes; Male; Mannosephosphates; Mice; Mucolipidoses; Mutagenesis, Site-Directed; Mutation, Missense; Phosphorylation; Protein Structure, Tertiary; Protein Subunits; Ribonucleoproteins, Small Nuclear; Substrate Specificity; Transferases (Other Substituted Phosphate Groups); Zebrafish; Zebrafish Proteins

2013
Unfortunate oversight.
    American journal of medical genetics. Part A, 2003, Sep-15, Volume: 122A, Issue:1

    Topics: Acetylglucosamine; Humans; Mucolipidoses; Phosphotransferases

2003
Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet.
    Journal of inherited metabolic disease, 1978, Volume: 1, Issue:3

    Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Aspartic Acid; Aspartylglucosaminuria; Child; Child, Preschool; Creatinine; Dietary Proteins; Female; Glucosamine; Humans; Intellectual Disability; Male; Mucolipidoses

1978
Quantitative determination of 4-N-2-acetamido-2-deoxy-beta-D-glucopyranosyl-L-asparagine in the urine of patients with aspartylglycosaminuria by gas-liquid chromatography.
    The Journal of laboratory and clinical medicine, 1979, Volume: 93, Issue:5

    Topics: Acetylglucosamine; Adolescent; Adult; Asparagine; Child; Child, Preschool; Chromatography, Gas; Female; Gas Chromatography-Mass Spectrometry; Glucosamine; Humans; Male; Mucolipidoses

1979
Identification of 4-N-2-acetamido-2-deoxy-beta-D-glucopyranosyl-L-asparagine in biological materials by gas chromatography-mass spectrometry.
    Clinica chimica acta; international journal of clinical chemistry, 1979, Jan-01, Volume: 91, Issue:1

    Topics: Acetylglucosamine; Adult; Asparagine; Chromatography, Gas; Female; Glucosamine; Glycopeptides; Humans; Mass Spectrometry; Mucolipidoses; Ovalbumin

1979
Multiple abnormalities of ectoglycosyltransferases in cultured fibroblasts from patients with mucolipidosis II: Possible indication for abnormal plasma membrane glycoproteins.
    Pediatric research, 1977, Volume: 11, Issue:10 Pt 2

    Topics: Acetylglucosamine; Cells, Cultured; Fibroblasts; Galactosyltransferases; Glycoproteins; Hexosyltransferases; Humans; In Vitro Techniques; Membrane Proteins; Mucolipidoses

1977
Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria.
    Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 1991, Volume: 20, Issue:5

    Topics: Acetylglucosamine; Acetylglucosaminidase; Biopsy; Child; Female; Gingiva; Humans; Lysosomes; Macroglossia; Mucolipidoses; Tooth Abnormalities; Tooth Eruption

1991
Synthesis of methyl 6-(ammonium 2-acetamido-2-deoxy-alpha-D-glucopyranosyl phosphate)-alpha-D-mannopyranoside and use of this compound for the determination of N-acetylglucosamine-1-phosphotransferase.
    Carbohydrate research, 1985, Dec-15, Volume: 145, Issue:1

    Topics: Acetylglucosamine; Animals; Carbon Radioisotopes; Cell Line; Chromatography, Thin Layer; Fibroblasts; Glucosephosphates; Humans; Indicators and Reagents; Lysosomes; Mannosephosphates; Microsomes, Liver; Mucolipidoses; Phosphotransferases; Rats; Transferases (Other Substituted Phosphate Groups); Uridine Diphosphate N-Acetylglucosamine

1985
Lysosomal storage defects.
    Hospital practice (Office ed.), 1985, Aug-15, Volume: 20, Issue:8

    Topics: Acetylglucosamine; Glycoside Hydrolases; Humans; Lysosomes; Mannosephosphates; Metabolism, Inborn Errors; Mucolipidoses; Mucopolysaccharidoses

1985