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Results 1 - 10 of 31 for Abnormal glycosylation
  1. DOLK-congenital disorder of glycosylation 
    ... of DOLK-CDG are likely due to the abnormal glycosylation of additional proteins in other organs and tissues. ... dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan ... disorder of glycosylation. Mol Genet Metab. 2013 Dec;110(4):484- ...
    https://medlineplus.gov/...dolk-congenital-disorder-of-glycosylation - Genetics
  2. SRD5A3 gene 
    ... Lefeber DJ. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain. 2010 ...
    https://medlineplus.gov/genetics/gene/srd5a3 - Genetics
  3. DOLK gene 
    ... of DOLK-CDG are likely due to the abnormal glycosylation of additional proteins in other organs and tissues. ...
    https://medlineplus.gov/genetics/gene/dolk - Genetics
  4. SRD5A3-congenital disorder of glycosylation 
    ... Lefeber DJ. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain. 2010 ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  5. GNE gene 
    ... Huijben KM, Lefeber DJ, Rudd PM, Wevers RA. Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  6. LARGE1 gene 
    ... congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet. 2003 Nov ...
    https://medlineplus.gov/genetics/gene/large1 - Genetics
  7. COG5-congenital disorder of glycosylation 
    ... which disrupts protein transport. This disruption results in abnormal protein glycosylation, which can affect numerous body systems, leading to ...
    https://medlineplus.gov/...cog5-congenital-disorder-of-glycosylation - Genetics
  8. COG5 gene 
    ... in the Golgi apparatus. This disruption results in abnormal protein glycosylation, which can affect multiple body systems, leading to ...
    https://medlineplus.gov/genetics/gene/cog5 - Genetics
  9. COG4 gene 
    ... Golgi apparatus. A dysfunctional Golgi apparatus results in abnormal protein glycosylation, which can affect multiple body systems, leading to ...
    https://medlineplus.gov/genetics/gene/cog4 - Genetics
  10. PMM2-congenital disorder of glycosylation 
    ... PMM2 gene lead to the production of an abnormal PMM2 enzyme with reduced activity. Without a properly functioning PMM2 enzyme, glycosylation cannot proceed normally. As a result, incorrect oligosaccharides ...
    https://medlineplus.gov/...pmm2-congenital-disorder-of-glycosylation - Genetics
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