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n-acetylglucosaminylasparagine and Cherry Red Spot Myoclonus Syndrome

n-acetylglucosaminylasparagine has been researched along with Cherry Red Spot Myoclonus Syndrome in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19904 (80.00)18.7374
1990's1 (20.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
O'Brien, JS; Warner, TG1
Borud, O; Lie, SO; Strömme, JH; Torp, KH1
Maury, P1
Kärkkäinen, J; Maury, P1
Apiou, J; Bonnaure-Mallet, M; Goasguen, J; Jezequel, C; Loiseau-Corvez, MN1

Reviews

1 review(s) available for n-acetylglucosaminylasparagine 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

4 other study(ies) available for n-acetylglucosaminylasparagine and Cherry Red Spot Myoclonus Syndrome

ArticleYear
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
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