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Results 1 - 10 of 46 for Congenital disorder of glycosylation 1
  1. ALG6-congenital disorder of glycosylation 
    ... type V CDG syndrome type Ic CDG1C CDGIc Congenital disorder of glycosylation type Ic Glucosyltransferase 1 deficiency Genetic Testing Registry: ALG6-congenital disorder of ...
    https://medlineplus.gov/...alg6-congenital-disorder-of-glycosylation - Genetics
  2. ALG1-congenital disorder of glycosylation 
    ... Carbohydrate deficient glycoprotein syndrome type Ik CDG1K CDGIk Congenital disorder of glycosylation type 1K Mannosyltransferase 1 deficiency Genetic Testing Registry: ALG1-congenital disorder of ...
    https://medlineplus.gov/...alg1-congenital-disorder-of-glycosylation - Genetics
  3. ALG12-congenital disorder of glycosylation 
    ... dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. Biochem J. 2002 Oct 1;367(Pt 1):195-201. doi: 10.1042/ ...
    https://medlineplus.gov/...lg12-congenital-disorder-of-glycosylation - Genetics
  4. B3GLCT gene 
    ... Hofsteenge J. Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. J Biol Chem. 2008 Mar 21;283( ...
    https://medlineplus.gov/genetics/gene/b3glct - Genetics
  5. SRD5A3-congenital disorder of glycosylation 
    ... Project. Association of Steroid 5alpha-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol. ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  6. PGM3-congenital disorder of glycosylation 
    ... Lausch E, Hanson IC. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014. ...
    https://medlineplus.gov/...pgm3-congenital-disorder-of-glycosylation - Genetics
  7. ALG12 gene 
    ... dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. Biochem J. 2002 Oct 1;367(Pt 1):195-201. doi: 10.1042/ ...
    https://medlineplus.gov/genetics/gene/alg12 - Genetics
  8. ALG6 gene 
    ... a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. Hum Mutat. 2003 Nov;22(5):420-1. doi: 10.1002/humu.9195. Citation on PubMed
    https://medlineplus.gov/genetics/gene/alg6 - Genetics
  9. Peters plus syndrome 
    ... Hofsteenge J. Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. J Biol Chem. 2008 Mar 21;283( ...
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  10. SRD5A3 gene 
    ... Project. Association of Steroid 5alpha-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol. ...
    https://medlineplus.gov/genetics/gene/srd5a3 - Genetics
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