Article
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.
The Journal of clinical investigation - 1 Jan 2000
Imbach T, Schenk B, Schollen E, Burda P, Stutz A, Grunewald S, Bailie N M, King M D, Jaeken J, Matthijs G, Berger E G, Aebi M, Hennet T
Abstract excerpt
Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndromes, lead to diseases with variable clinical pictures. We report the delineation of a novel type of CDG identified in 2 children presenting with severe developmental delay, seizures, and dysmorphic features. We detected hypoglycosylation on serum transferrin and cerebrospinal fluid beta-trace protein....
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- CD59 Antigens
- Carbohydrate Sequence
- Carrier Proteins
- Cells, Cultured
- Child, Preschool
- Congenital Disorders of Glycosylation
- Endoplasmic Reticulum