𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The Carbohydrate-Deficient glycoprotein syndromes

✍ Scribed by Jaak Jaeken


Publisher
Springer-Verlag
Year
1996
Tongue
English
Weight
187 KB
Volume
27
Category
Article
ISSN
1044-7393

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Carbohydrate-deficient glycoprotein synd
✍ de Michelena, Maria Isabel; Franchi, Luis Miguel; Summers, Percy G.; De La Fuent πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 15 KB πŸ‘ 2 views

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

Coagulation abnormalities in the carbohy
✍ Young, Guy; Driscoll, M. Catherine πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 102 KB πŸ‘ 2 views

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