Article
The carbohydrate deficient glycoprotein syndrome in three Japanese children.
Brain & development - 1 Jan 1992
Ohno K, Yuasa I, Akaboshi S, Itoh M, Yoshida K, Ehara H, Ochiai Y, Takeshita K
Abstract excerpt
We describe 3 children (from two families) with a multisystemic disorder characterized by mental retardation, nonprogressive ataxia, polyneuropathy, hepatopathy during infancy and growth retardation. Due to the clinical similarities to a recently recognized disorder associated with carbohydrate-d...
Topics
- Adolescent
- Carbohydrate Metabolism, Inborn Errors
- Child, Preschool
- Female
- Glycoproteins
- Humans
- Isoelectric Focusing
- Japan
- Male
- Phenotype
- Syndrome
- Transferrin
- alpha 1-Antitrypsin