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18 in total

1. Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.

Authors: C Knopf; R Rod; J Jaeken; M Berant; E Van Schaftingen; J P Fryns; R Brill-Zamir; R Gershoni-Baruch; S Lischinsky; H Mandel
Journal: J Inherit Metab Dis Date: 2000-06 Impact factor: 4.982

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

Authors: C Körner; R Knauer; U Holzbach; F Hanefeld; L Lehle; K von Figura
Journal: Proc Natl Acad Sci U S A Date: 1998-10-27 Impact factor: 11.205

3. The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type I by capillary zone electrophoresis.

Authors: O Iourin; T S Mattu; N Mian; G Keir; B Winchester; R A Dwek; P M Rudd
Journal: Glycoconj J Date: 1996-12 Impact factor: 2.916

4. Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Authors: J Jaeken; G Matthijs; R Barone; H Carchon
Journal: J Med Genet Date: 1997-01 Impact factor: 6.318

Review 5. Carbohydrate-deficient glycoprotein syndromes.

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

6. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

Authors: L Pavone; A Fiumara; R Barone; R Rizzo; P Buttitta; W B Dobyns; J Jaeken
Journal: J Neurol Date: 1996-10 Impact factor: 4.849

7. 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

8. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.

Authors: T Imbach; P Burda; P Kuhnert; R A Wevers; M Aebi; E G Berger; T Hennet
Journal: Proc Natl Acad Sci U S A Date: 1999-06-08 Impact factor: 11.205

9. 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

10. Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

Authors: H Stibler; G Blennow; B Kristiansson; H Lindehammer; B Hagberg
Journal: J Neurol Neurosurg Psychiatry Date: 1994-05 Impact factor: 10.154