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Results 11 - 20 of 51 for Congenital disorder of glycosylation
  1. B3GLCT gene 
    ... Hofsteenge J. Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type ...
    https://medlineplus.gov/genetics/gene/b3glct - Genetics
  2. Cutis laxa 
    Cutis laxa is a disorder of connective tissue, which is the tissue that provides structure and strength to the muscles, joints, organs, and skin. Most cases ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  3. ALG6 gene 
    ... ALG6 gene have been found to cause ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic). This condition typically leads to developmental ...
    https://medlineplus.gov/genetics/gene/alg6 - Genetics
  4. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/metabolicdisorders.html - Health Topics
  5. ALG1 gene 
    ... ALG1 gene have been found to cause ALG1-congenital disorder of glycosylation (ALG1-CDG). This condition typically leads to intellectual ... Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel ...
    https://medlineplus.gov/genetics/gene/alg1 - Genetics
  6. ALG12 gene 
    ... ALG12 gene have been found to cause ALG12-congenital disorder of glycosylation (ALG12-CDG). This condition typically leads to delayed ... 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
  7. SRD5A3 gene 
    ... SRD5A3 gene have been found to cause SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG). This condition primarily causes neurological and ... Jaeken J, Lefeber DJ, Matthijs G. SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card. Eur J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/srd5a3 - Genetics
  8. PMM2 gene 
    ... PMM2 gene have been found to cause PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia). This is a severe condition that ...
    https://medlineplus.gov/genetics/gene/pmm2 - Genetics
  9. PGM3 gene 
    ... PGM3 gene have been found to cause PGM3-congenital disorder of glycosylation (PGM3-CDG). This condition primarily affects the immune ... G. Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation. Eur J Hum Genet. 2019 Nov;27(11): ...
    https://medlineplus.gov/genetics/gene/pgm3 - Genetics
  10. DOLK gene 
    ... DOLK gene have been found to cause DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im). This condition often causes the heart ...
    https://medlineplus.gov/genetics/gene/dolk - Genetics
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