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5 in total

1. Micro anion exchange chromatography of carbohydrate-deficient transferrin in serum in relation to alcohol consumption (Swedish Patent 8400587-5).

Authors: H Stibler; S Borg; M Joustra
Journal: Alcohol Clin Exp Res Date: 1986-10 Impact factor: 3.455

2. Disialotransferrin developmental deficiency syndrome.

Authors: B Kristiansson; M Andersson; B Tonnby; B Hagberg
Journal: Arch Dis Child Date: 1989-01 Impact factor: 3.791

3. An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins.

Authors: J Jaeken; E Eggermont; H Stibler
Journal: Lancet Date: 1987-12-12 Impact factor: 79.321

4. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.

Authors: J Jaeken; H G van Eijk; C van der Heul; L Corbeel; R Eeckels; E Eggermont
Journal: Clin Chim Acta Date: 1984-12-29 Impact factor: 3.786

5. Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.

Authors: H Stibler; J Jaeken
Journal: Arch Dis Child Date: 1990-01 Impact factor: 3.791

5 in total

18 in total

1. Carbohydrate-deficient glycoprotein syndrome type 2.

Authors: H Engelhardt; M Staudt; A Hässler; U Holzbach; P Freisinger; I Krägeloh-Mann
Journal: J Inherit Metab Dis Date: 1999-04 Impact factor: 4.982

Review 2. New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system.

Authors: Bradley S Miller; Hudson H Freeze
Journal: Rev Endocr Metab Disord Date: 2003-03 Impact factor: 6.514

Review 3. Carbohydrate-deficient glycoprotein syndromes.

Authors: N Gordon
Journal: Postgrad Med J Date: 2000-03 Impact factor: 2.401

4. Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Authors: F Imtiaz; V Worthington; M Champion; C Beesley; J Charlwood; P Clayton; G Keir; N Mian; B Winchester
Journal: J Inherit Metab Dis Date: 2000-03 Impact factor: 4.982

Review 5. The carbohydrate-deficient glycoprotein syndromes: an overview.

Authors: J Jaeken; H Carchon
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

6. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

Authors: P Burda; L Borsig; J de Rijk-van Andel; R Wevers; J Jaeken; H Carchon; E G Berger; M Aebi
Journal: J Clin Invest Date: 1998-08-15 Impact factor: 14.808

7. Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?

Authors: L D Powell; K Paneerselvam; R Vij; S Diaz; A Manzi; N Buist; H Freeze; A Varki
Journal: J Clin Invest Date: 1994-11 Impact factor: 14.808

A new variant of the carbohydrate deficient glycoproteins syndrome.