Literature DB >> 16361681

Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration.

M Y Kahook, N Mandava, J B Bateman, J A Thomas.   

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Year:  2006        PMID： 16361681      PMCID： PMC1478164          DOI： 10.1136/bjo.2005.080648

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  5 in total

1.  Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.

Authors:  Liangwu Sun; Erik A Eklund; Johan L K Van Hove; Hudson H Freeze; Janet A Thomas
Journal:  Am J Med Genet A       Date:  2005-08-15       Impact factor: 2.802

2.  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

3.  Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

Authors:  S Grünewald; T Imbach; K Huijben; M E Rubio-Gozalbo; A Verrips; J B de Klerk; H Stroink; J F de Rijk-van Andel; J L Van Hove; U Wendel; G Matthijs; T Hennet; J Jaeken; R A Wevers
Journal:  Ann Neurol       Date:  2000-06       Impact factor: 10.422

4.  Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

Authors:  J Jaeken
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

5.  Ophthalmic manifestations of congenital disorder of glycosylation type 1a.

Authors:  Hanne Jensen; Susanne Kjaergaard; Flemming Klie; H U Moller
Journal:  Ophthalmic Genet       Date:  2003-06       Impact factor: 1.803
  5 in total
  4 in total

1.  Neurology of inherited glycosylation disorders.

Authors:  Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal:  Lancet Neurol       Date:  2012-05       Impact factor: 44.182

2.  A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.

Authors:  Mohammed Al-Owain; Sarar Mohamed; Namik Kaya; Ahmad Zagal; Gert Matthijs; Jaak Jaeken
Journal:  Orphanet J Rare Dis       Date:  2010-04-16       Impact factor: 4.123

3.  Mutations in four glycosyl hydrolases reveal a highly coordinated pathway for rhodopsin biosynthesis and N-glycan trimming in Drosophila melanogaster.

Authors:  Erica E Rosenbaum; Eva Vasiljevic; Kimberley S Brehm; Nansi Jo Colley
Journal:  PLoS Genet       Date:  2014-05-01       Impact factor: 5.917

4.  Congenital protein hypoglycosylation diseases.

Authors:  Susan E Sparks
Journal:  Appl Clin Genet       Date:  2012-07-05
  4 in total

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