Literature DB >> 9032653

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

J Jaeken1, G Matthijs, R Barone, H Carchon.   

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Year:  1997        PMID： 9032653      PMCID： PMC1050850          DOI： 10.1136/jmg.34.1.73

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  26 in total

1.  Enzymes involved in the synthesis of mannose-6-phosphate from glucose are normal in carbohydrate deficient glycoprotein syndrome fibroblasts.

Authors:  K Panneerselvam; H H Freeze
Journal:  Biochem Biophys Res Commun       Date:  1995-03-17       Impact factor: 3.575

2.  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

Review 3.  The carbohydrate-deficient glycoprotein syndromes: an overview.

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

4.  Carbohydrate-deficient glycoprotein syndrome with previously unreported features.

Authors:  F Eyskens; C Ceuterick; J J Martin; G Janssens; J Jaeken
Journal:  Acta Paediatr       Date:  1994-08       Impact factor: 2.299

5.  Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.

Authors:  T Martinsson; C Bjursell; H Stibler; B Kristiansson; F Skovby; J Jaeken; G Blennow; P Strömme; F Hanefeld; J Wahlström
Journal:  Hum Mol Genet       Date:  1994-11       Impact factor: 6.150

6.  Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence.

Authors:  F de Zegher; J Jaeken
Journal:  Pediatr Res       Date:  1995-04       Impact factor: 3.756

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

8.  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

9.  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

10.  A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome.

Authors:  C Van Geet; J Jaeken
Journal:  Pediatr Res       Date:  1993-05       Impact factor: 3.756
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  16 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.  Phosphomannomutase deficiency and normal pubertal development.

Authors:  J Artigas; E Cardo; M Pineda; R Nosas; J Jaeken
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

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

Authors:  J Jaeken; J Artigas; R Barone; A Fiumara; T J de Koning; B T Poll-The; J F de Rijk-van Andel; G F Hoffmann; B Assmann; E Mayatepek; M Pineda; M A Vilaseca; J M Saudubray; B Schlüter; R Wevers; E Van Schaftingen
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

4.  High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Authors:  S Grünewald; E Schollen; E Van Schaftingen; J Jaeken; G Matthijs
Journal:  Am J Hum Genet       Date:  2001-01-11       Impact factor: 11.025

Review 5.  Carbohydrate-deficient glycoprotein syndromes.

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

6.  Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

Authors:  V Westphal; S Murch; S Kim; G Srikrishna; B Winchester; R Day; H H Freeze
Journal:  Am J Pathol       Date:  2000-12       Impact factor: 4.307

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 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

Review 9.  Skin manifestations in CDG.

Authors:  D Rymen; J Jaeken
Journal:  J Inherit Metab Dis       Date:  2014-02-20       Impact factor: 4.982

10.  Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose.

Authors:  C Körner; L Lehle; K von Figura
Journal:  Glycoconj J       Date:  1998-05       Impact factor: 2.916
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