Page last updated: 2024-08-22

acetylglucosamine and Congenital Disorders of Glycosylation

acetylglucosamine has been researched along with Congenital Disorders of Glycosylation in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's3 (60.00)24.3611
2020's2 (40.00)2.80

Authors

AuthorsStudies
Chang, B; Collin, GB; Fliesler, SJ; Hyde, LF; Kong, Y; Krebs, MP; Naggert, JK; Nishina, PM; Njaa, A; Rao, SR; Stone, L; Wang, J; Zhao, L1
Asahina, M; Fujinawa, R; Hirayama, H; Kajii, Y; Suzuki, T; Tozawa, R1
Bi, Y; Chow, CY; Lowry, JB; Might, M; Owings, KG1
Couse, MH; de Sain-van der Velden, MGM; Friedman, JM; Gerrits, J; Haijes, HA; Jans, JJM; Prinsen, HCMT; Selby, KA; van der Ham, M; van Hasselt, PM; van Karnebeek, CDM; Verhoeven-Duif, NM; Willems, AP1
Bengtson, P; Eklund, EA; Freeze, HH; Jaeken, J; Matthijs, G; Ng, BG1

Other Studies

5 other study(ies) available for acetylglucosamine and Congenital Disorders of Glycosylation

ArticleYear
A
    International journal of molecular sciences, 2022, Oct-09, Volume: 23, Issue:19

    Topics: Acetylglucosamine; Animals; Aspartic Acid; Congenital Disorders of Glycosylation; Glycine; Humans; Mice; Muscle Weakness; Mutation; Mutation, Missense; Phosphates; Quality of Life; Retinal Diseases; Uridine Diphosphate

2022
Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
    Molecular brain, 2021, 06-13, Volume: 14, Issue:1

    Topics: Acetylglucosamine; Animals; Congenital Disorders of Glycosylation; Disease Models, Animal; Genetic Therapy; Genetic Vectors; Gliosis; Humans; Inflammation; Injections, Intraventricular; Motor Activity; Neurons; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Rats; Rats, Transgenic; Transgenes

2021
Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
    Human molecular genetics, 2018, 03-15, Volume: 27, Issue:6

    Topics: Acetylglucosamine; Animals; Congenital Disorders of Glycosylation; Developmental Disabilities; Disease Models, Animal; Drosophila melanogaster; Drosophila Proteins; Endoplasmic Reticulum; Endoplasmic Reticulum-Associated Degradation; Glycosylation; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Proteasome Endopeptidase Complex; Seizures; Sequence Analysis, RNA; Transcriptome

2018
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
    Molecular genetics and metabolism, 2019, Volume: 127, Issue:4

    Topics: Acetylglucosamine; Adolescent; Adult; Biomarkers; Case-Control Studies; Child; Child, Preschool; Congenital Disorders of Glycosylation; Dried Blood Spot Testing; Female; Humans; Infant; Male; Mass Spectrometry; Mutation; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase

2019
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
    Journal of inherited metabolic disease, 2016, Volume: 39, Issue:1

    Topics: Acetylglucosamine; Biomarkers; Chromatography, Liquid; Congenital Disorders of Glycosylation; Glycosylation; Humans; Mannosyltransferases; Mass Spectrometry; Oligosaccharides; Serum; Transferrin

2016