Literature DB >> 2890978

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

J Jaeken, E Eggermont, H Stibler.   

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Year:  1987        PMID： 2890978     DOI： 10.1016/s0140-6736(87)91287-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  11 in total

1.  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

2.  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

3.  Disialotransferrin developmental deficiency syndrome.

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

Review 4.  The carbohydrate-deficient glycoprotein syndromes: an overview.

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

5.  A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Authors:  Eva Morava; Ron A Wevers; Vincent Cantagrel; Lies H Hoefsloot; Lihadh Al-Gazali; Jeroen Schoots; Arno van Rooij; Karin Huijben; Connie M A van Ravenswaaij-Arts; Marjolein C J Jongmans; Jolanta Sykut-Cegielska; Georg F Hoffmann; Peter Bluemel; Maciej Adamowicz; Jeroen van Reeuwijk; Bobby G Ng; Jorieke E H Bergman; Hans van Bokhoven; Christian Körner; Dusica Babovic-Vuksanovic; Michel A Willemsen; Joseph G Gleeson; Ludwig Lehle; Arjan P M de Brouwer; Dirk J Lefeber
Journal:  Brain       Date:  2010-09-17       Impact factor: 13.501

6.  Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years.

Authors:  I Casteels; W Spileers; A Leys; L Lagae; J Jaeken
Journal:  Br J Ophthalmol       Date:  1996-10       Impact factor: 4.638

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.  Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome.

Authors:  S P Horslen; P T Clayton; B N Harding; N A Hall; G Keir; B Winchester
Journal:  Arch Dis Child       Date:  1991-09       Impact factor: 3.791

9.  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

10.  Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.

Authors:  K Panneerselvam; H H Freeze
Journal:  J Clin Invest       Date:  1996-03-15       Impact factor: 14.808
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