Article
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
The Journal of clinical investigation - 1 Jan 2000
Kim S, Westphal V, Srikrishna G, Mehta D P, Peterson S, Filiano J, Karnes P S, Patterson M C, Freeze H H
Abstract excerpt
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin (Tf). Two patients with these symptoms and similar abnormal Tf IEF patterns were analyzed by metabolic labeling of fibroblasts with...
Topics
- Brain Diseases, Metabolic, Inborn
- Carbohydrate Sequence
- Cells, Cultured
- Congenital Disorders of Glycosylation
- DNA Mutational Analysis
- Developmental Disabilities
- Female
- Fibroblasts
- Glycoside Hydrolases
- Glycosylation
- Humans
- Infant
- Isoelectric Focusing