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acetylglucosamine and Abnormalities, Multiple

acetylglucosamine has been researched along with Abnormalities, Multiple in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19902 (66.67)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Flanagan-Steet, H; Kornfeld, SA; Qian, Y; Steet, R; van Meel, E1
Becker, C; Gehler, J; Hartmann, J; Sewell, AC; Spranger, J1
Schmidt, H; Sewell, AC; Ullrich, K; von Lengerke, JH; Weglage, J; Ziegler, R1

Other Studies

3 other study(ies) available for acetylglucosamine and Abnormalities, Multiple

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
Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.
    Helvetica paediatrica acta, 1981, Volume: 36, Issue:2

    Topics: Abnormalities, Multiple; Acetylglucosamine; Adult; Amidohydrolases; Aspartic Acid; Aspartylglucosaminuria; Child; Fabry Disease; Facial Bones; Female; Glucosamine; Humans; Intellectual Disability; Italy; Male; Pedigree; Skull

1981
[Aspartylglucosaminuria. Clinical description of 2 German patients].
    Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1989, Volume: 137, Issue:8

    Topics: Abnormalities, Multiple; Acetylglucosamine; Adolescent; Amidohydrolases; Aspartylglucosaminuria; Child; Child Development; Female; Fibroblasts; Humans; Intellectual Disability; Leukocytes; Risk Factors

1989