Literature DB >> 8127054

Carbohydrate-deficient glycoprotein syndrome type II.

J Jaeken1, P De Cock, H Stibler, C Van Geet, J Kint, V Ramaekers, H Carchon.   

Abstract

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Year:  1993        PMID： 8127054     DOI： 10.1007/bf00711522

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

Review 1.  The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

Authors:  J Jaeken; H Stibler; B Hagberg
Journal:  Acta Paediatr Scand Suppl       Date:  1991

2.  A new variant of the carbohydrate deficient glycoproteins syndrome.

Authors:  V T Ramaekers; H Stibler; J Kint; J Jaeken
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III.

Authors:  H Stibler; B Westerberg; F Hanefeld; B Hagberg
Journal:  Neuropediatrics       Date:  1993-02       Impact factor: 1.947
  3 in total
  13 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

2.  Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG).

Authors:  S Grünewald; R De Vos; J Jaeken
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

3.  Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

Authors:  L J M Spaapen; J A Bakker; S B van der Meer; H J Sijstermans; R A Steet; R A Wevers; J Jaeken
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

4.  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

5.  Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

Authors:  C Van Geet; J Jaeken; K Freson; T Lenaerts; J Arnout; J Vermylen; M F Hoylaerts
Journal:  J Inherit Metab Dis       Date:  2001-08       Impact factor: 4.982

6.  A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

Authors:  P de Lonlay; N Seta; S Barrot; B Chabrol; V Drouin; B M Gabriel; H Journel; M Kretz; J Laurent; M Le Merrer; A Leroy; D Pedespan; P Sarda; N Villeneuve; J Schmitz; E van Schaftingen; G Matthijs; J Jaeken; C Korner; A Munnich; J M Saudubray; V Cormier-Daire
Journal:  J Med Genet       Date:  2001-01       Impact factor: 6.318

7.  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

8.  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

Review 9.  Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.

Authors:  T Marquardt; J Denecke
Journal:  Eur J Pediatr       Date:  2003-03-15       Impact factor: 3.183

10.  Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

Authors:  J Jaeken; H Schachter; H Carchon; P De Cock; B Coddeville; G Spik
Journal:  Arch Dis Child       Date:  1994-08       Impact factor: 3.791
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