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Results 1 - 8 of 8 for "N-acetyl-alpha-D-glucosamine"
  1. PGM3-congenital disorder of glycosylation 
    ... immunodeficiency due to PGM3 deficiency Deficiency of N-acetylglucosamine-phosphate mutase 1 Deficiency of phosphoglucomutase 3 Immunodeficiency ...
    https://medlineplus.gov/...pgm3-congenital-disorder-of-glycosylation - Genetics
  2. Mucolipidosis III gamma 
    ... of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients ... Zeigler M. Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations ...
    https://medlineplus.gov/genetics/condition/mucolipidosis-iii-gamma - Genetics
  3. GNE myopathy 
    ... Argov Z, Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated ... is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J ...
    https://medlineplus.gov/genetics/condition/gne-myopathy - Genetics
  4. Adams-Oliver syndrome 
    ... certain proteins by transferring a molecule called N-acetylglucosamine to them. It is thought that the EOGT ... growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome. J Biol ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  5. Mucolipidosis II alpha/beta 
    ... II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian ...
    https://medlineplus.gov/.../condition/mucolipidosis-ii-alpha-beta - Genetics
  6. Mucolipidosis III alpha/beta 
    ... Ullrich K, Braulke T. Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  7. Sialuria 
    ... Gahl WA. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and ...
    https://medlineplus.gov/genetics/condition/sialuria - Genetics
  8. HIVEP2-related intellectual disability 
    ... and its modulation by O-linked beta-N-acetylglucosamine (O-GlcNAc) transferase. J Biol Chem. 2012 Mar ...
    https://medlineplus.gov/.../hivep2-related-intellectual-disability - Genetics