Literature DB >> 10896303

Carbohydrate-deficient glycoprotein syndrome: beyond the screen.

J M Fletcher1, G Matthijs, J Jaeken, E Van Schaftingen, P V Nelson.   

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Year:  2000        PMID： 10896303     DOI： 10.1023/a:1005660004047

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


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  3 in total

1.  The carbohydrate deficient glycoprotein syndrome in three Japanese children.

Authors:  K Ohno; I Yuasa; S Akaboshi; M Itoh; K Yoshida; H Ehara; Y Ochiai; K Takeshita
Journal:  Brain Dev       Date:  1992-01       Impact factor: 1.961

2.  Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

Authors:  G Matthijs; E Schollen; E Van Schaftingen; J J Cassiman; J Jaeken
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

3.  Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

Authors:  E Van Schaftingen; J Jaeken
Journal:  FEBS Lett       Date:  1995-12-27       Impact factor: 4.124
  3 in total
  6 in total

Review 1.  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

2.  Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Authors:  M Casado; M M O'Callaghan; R Montero; C Pérez-Cerda; B Pérez; P Briones; E Quintana; J Muchart; A Aracil; M Pineda; R Artuch
Journal:  Cerebellum       Date:  2012-06       Impact factor: 3.847

3.  Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.

Authors:  Sarah B Mulkey; Bobby G Ng; Gilbert L Vezina; Dorothy I Bulas; Lynne A Wolfe; Hudson H Freeze; Carlos R Ferreira
Journal:  Pediatr Neurol       Date:  2018-12-24       Impact factor: 3.372

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.  Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

Authors:  B Shanti; M Silink; K Bhattacharya; N J Howard; K Carpenter; M Fietz; P Clayton; J Christodoulou
Journal:  J Inherit Metab Dis       Date:  2009-04-27       Impact factor: 4.982

6.  Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.

Authors:  S Vermeer; H P H Kremer; Q H Leijten; H Scheffer; G Matthijs; R A Wevers; N A V M Knoers; E Morava; D J Lefeber
Journal:  J Neurol       Date:  2007-08-15       Impact factor: 4.849
  6 in total

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