𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency

✍ Scribed by E. Mayatepek; D. Kohlmüller

Publisher
Springer
Year
1998
Tongue
English
Weight
202 KB
Volume
157
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Carbohydrate-deficient glycoprotein synd
Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: The first reported cases from Latin America
✍ de Michelena, Maria Isabel; Franchi, Luis Miguel; Summers, Percy G.; De La Fuent 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 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