Disease: Congenital disorder of glycosylation type 1G
- ALG12-CDG: novel glycophenotype insights endorse the molecular defect
- Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins
- COG8 deficiency causes new congenital disorder of glycosylation type IIh
- Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature
- Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report
- Congenital disorder of glycosylation type 1b. Experience with mannose treatment
- Contribution of a Novel <em>B3GLCT</em> Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining
- Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features
- Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia
- Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects
- Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter
- Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
- Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation
- Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig
- Oral ingestion of mannose elevates blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I