Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

Gelijkaardige items

• Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion
  door: Schollen, E, et al.
  Gepubliceerd in: (2004)
• Identification and Functional Analysis of a Defect in the Human ALG9 Gene: Definition of Congenital Disorder of Glycosylation Type IL
  door: Frank, Christian G., et al.
  Gepubliceerd in: (2004)
• ALG11-CDG: Three novel mutations and further characterization of the phenotype
  door: Regal, L., et al.
  Gepubliceerd in: (2014)
• Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation
  door: Jaeken, Jaak, et al.
  Gepubliceerd in: (2015)
• Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation
  door: Jaeken, Jaak, et al.
  Gepubliceerd in: (2015)