Literature DB >> 11008258

What's new in congenital disorders of glycosylation?

J Jaeken1, H Carchon.   

Abstract

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Mesh：

Year:  2000        PMID： 11008258     DOI： 10.1053/ejpn.2000.0292

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN： 1090-3798            Impact factor:   3.140


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  4 in total

1.  The clinical relevance of glycobiology.

Authors:  H Schachter
Journal:  J Clin Invest       Date:  2001-12       Impact factor: 14.808

2.  Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.

Authors:  P Briones; M A Vilaseca; E Schollen; I Ferrer; M Maties; C Busquets; R Artuch; L Gort; M Marco; E van Schaftingen; G Matthijs; J Jaeken; A Chabás
Journal:  J Inherit Metab Dis       Date:  2002-12       Impact factor: 4.982

3.  A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy.

Authors:  V Prietsch; V Peters; R Hackler; R Jakobi; B Assmann; J Fang; C Körner; A Helwig-Rolig; J R Schaefer; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2002-05       Impact factor: 4.982

4.  Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.

Authors:  D Coman; S Klingberg; D Morris; J McGill; H Mercer
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.750
  4 in total

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