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Results 1 - 10 of 31 for Congenital disorder of glycosylation 2
  1. PMM2-congenital disorder of glycosylation 
    ... glycoprotein syndrome type Ia CDG Ia CDG1a CDGS1a Congenital disorder of glycosylation type Ia Jaeken syndrome Phosphomannomutase 2 deficiency PMM deficiency PMM2-CDG Genetic Testing Registry: ...
    https://medlineplus.gov/...pmm2-congenital-disorder-of-glycosylation - Genetics
  2. COG5-congenital disorder of glycosylation 
    ... j.carres.2008.01.034. Epub 2008 Feb 2. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...cog5-congenital-disorder-of-glycosylation - Genetics
  3. PMM2 gene 
    ... Central Grunewald S. The clinical spectrum of phosphomannomutase 2 ... disorders of glycosylation: an update on defects affecting the biosynthesis of ...
    https://medlineplus.gov/genetics/gene/pmm2 - Genetics
  4. ALG1-congenital disorder of glycosylation 
    ... early fatal outcome. Gene. 2014 Jan 25;534(2):345-51. doi: 10.1016/j.gene.2013.10.013. Epub 2013 Oct 21. Citation on PubMed
    https://medlineplus.gov/...alg1-congenital-disorder-of-glycosylation - Genetics
  5. Fukuyama congenital muscular dystrophy 
    ... Feb. Citation on PubMed Martin PT. Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage. Nat Clin Pract Neurol. 2006 Apr;2(4):222-30. doi: 10.1038/ncpneuro0155. Citation ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  6. ALG1 gene 
    ... Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. J Med Genet. 2010 Nov;47(11):729-35. doi: 10.1136/jmg.2009.072504. Epub 2010 Aug 2. Erratum In: J Med Genet. 2015 Mar;52( ...
    https://medlineplus.gov/genetics/gene/alg1 - Genetics
  7. SLC35A2 gene 
    ... oligosaccharide is attached to a protein or lipid.Two versions of the enzyme, known as UGT1 and ... disorder of glycosylation (SLC35A2-CDG). SLC35A2-CDG is an inherited condition ...
    https://medlineplus.gov/genetics/gene/slc35a2 - Genetics
  8. ALG12 gene 
    ... 6-mannosyltransferase dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase ECM39 hALG12 mannosyltransferase ALG12 homolog ... B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE. Congenital disorders of glycosylation type Ig is defined by a deficiency in ...
    https://medlineplus.gov/genetics/gene/alg12 - Genetics
  9. ALG6 gene 
    ... P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase ... and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect ...
    https://medlineplus.gov/genetics/gene/alg6 - Genetics
  10. SLC35A2-congenital disorder of glycosylation 
    SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG, formerly known as congenital disorder of glycosylation type IIm) is an inherited condition that causes ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
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