Literature DB >> 1720595

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

J Jaeken1, H Stibler, B Hagberg.   

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Year:  1991        PMID: 1720595

Source DB:  PubMed          Journal:  Acta Paediatr Scand Suppl        ISSN: 0300-8843


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  38 in total

1.  Carbohydrate-deficient glycoprotein syndromes: the Italian experience.

Authors:  M Di Rocco; R Barone; A Adami; A Burlina; M Carrozzi; C Dionisi-Vici; R Gatti; P Iannetti; R Parini; U Raucci; M Roccella; M Spada; A Fiumara
Journal:  J Inherit Metab Dis       Date:  2000-06       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

3.  Glycosylation affects rat Kv1.1 potassium channel gating by a combined surface potential and cooperative subunit interaction mechanism.

Authors:  Itaru Watanabe; Hong-Gang Wang; Jhon J Sutachan; Jing Zhu; Esperanza Recio-Pinto; William B Thornhill
Journal:  J Physiol       Date:  2003-07-01       Impact factor: 5.182

4.  Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes.

Authors:  Lucie Hertz-Pannier; Michele Déchaux; Martine Sinico; Sophie Emond; Valerie Cormier-Daire; Jean-Marie Saudubray; Francis Brunelle; Patrick Niaudet; Nathalie Seta; Pascale de Lonlay
Journal:  Pediatr Radiol       Date:  2005-11-22

5.  The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I).

Authors:  B Kristiansson; H Stibler; N Conradi; B O Eriksson; W Ryd
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

Review 6.  Structures of proteins of biomedical interest from the Center for Eukaryotic Structural Genomics.

Authors:  George N Phillips; Brian G Fox; John L Markley; Brian F Volkman; Euiyoung Bae; Eduard Bitto; Craig A Bingman; Ronnie O Frederick; Jason G McCoy; Betsy L Lytle; Brad S Pierce; Jikui Song; Simon N Twigger
Journal:  J Struct Funct Genomics       Date:  2007-09-06

7.  Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome.

Authors:  M T García Silva; J de Castro; H Stibler; R Simón; A Chasco Yrigoyen; F Mateos; I Ferrer; S Madero; J M Velasco; F Guttierrez-Larraya
Journal:  J Inherit Metab Dis       Date:  1996       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

9.  Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia).

Authors:  S Kjaergaard; J Müller; F Skovby
Journal:  Arch Dis Child       Date:  2002-10       Impact factor: 3.791

10.  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

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