The Carbohydrate-Deficient glycoprotein syndromes
β Scribed by Jaak Jaeken
- Publisher
- Springer-Verlag
- Year
- 1996
- Tongue
- English
- Weight
- 187 KB
- Volume
- 27
- Category
- Article
- ISSN
- 1044-7393
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π SIMILAR VOLUMES
The carbohydrate-deficient glycoprotein syndromes (CDGS) make up a recently delineated group of inherited metabolic diseases that are characterized by a reduction of the carbohydrate content of glycoproteins. They were first described by Jaeken in two sisters in 1980, but it was only after a second
The carbohydrate-deficient glycoprotein syndromes are a group of recently described autosomal recessive, metabolic defects affecting multiple systems. The disorder is caused by inefficient posttranslational glycosylation of glycoproteins. Patients with the syndrome present early in life with psychom