Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis-Reference-Cited by-同舟云学术

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

Published:2000-06 Issue:6 Volume:47 Page:776-781
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Gr�newald S.,Imbach T.,Huijben K.,Rubio-Gozalbo M. E.,Verrips A.,De Klerk J. B. C.,Stroink H.,De Rijk-Van Andel J. F.,Van Hove J. L. K.,Wendel U.,Matthijs G.,Hennet T.,Jaeken J.,Wevers R. A.

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference29 articles.

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2. Glycoproteins and Their Relationship to Human Disease

3. Isoforms and levels of transferrin, antithrombin, a1-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I

4. Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

5. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

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