Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId-Reference-Cited by-同舟云学术

Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId

Published:2002-03-15 Issue:6 Volume:109 Page:725-733
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Hanßke Bengt,Thiel Christian,Lübke Torben,Hasilik Martin,Höning Stefan,Peters Verena,Heidemann Peter H.,Hoffmann Georg F.,Berger Eric G.,von Figura Kurt,Körner Christian

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Reference43 articles.

1. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

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

3. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

4. Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

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