Article
[Diagnosis and nosology of glycanosis CDG ("carbohydrate deficient glycoprotein syndrome")].
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde - 1 Nov 1992
Heyne K, Weidinger S
Abstract excerpt
BACKGROUND: The "Carbohydrate-deficient glycoprotein syndrome" is a recently discovered inborn error of complex carbohydrate metabolism. The disease involves a number of organ systems and various deficient glycoproteins. An abnormal isoform of serum transferrin is of diagnostic value. METHODS: We analysed the glycoprotein alpha-1-antitrypsin of two affected infants and their clinically healthy parents using high...
Topics
- Abnormalities, Multiple
- Carbohydrate Metabolism, Inborn Errors
- Female
- Genetic Markers
- Glycoproteins
- Humans
- Infant, Newborn
- Isoelectric Focusing
- Lysosomal Storage Diseases
- Male
- Phenotype