PedAM
Pediatric Disease Annotations & Medicines
| Disease | n syndrome |
| Phenotype | C0282577|carbohydrate-deficient glycoprotein syndrome |
| Sentences | 2 |
| PubMedID- 20428984 | Furthermore, patients with the autosomal recessive disease carbohydrate-deficient glycoprotein syndrome type ii have been shown to have mutations in mgat2 (tan et al. |
| PubMedID- 21977037 | Pmi deficiency is the cause of carbohydrate-deficient glycoprotein syndrome type ib (cdg-ib, omim 602579) in humans, but the clinical symptoms and aberrant glycosylation can be corrected with dietary mannose supplements [40]. |
Page: 1