Literature DB >> 11356431

Diversity of congenital disorders of glycosylation.

J Leonard1, S Grünewald, P Clayton.   

Abstract

Entities:  

Mesh：

Year:  2001        PMID： 11356431     DOI： 10.1016/S0140-6736(00)04618-3

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


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  4 in total

1.  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

2.  Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

Authors:  E Morava; H Wosik; J Kárteszi; M Guillard; M Adamowicz; J Sykut-Cegielska; K Hadzsiev; R A Wevers; D J Lefeber
Journal:  J Inherit Metab Dis       Date:  2008-05-20       Impact factor: 4.750

3.  Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Authors:  Mercedes Serrano; Víctor de Diego; Jordi Muchart; Daniel Cuadras; Ana Felipe; Alfons Macaya; Ramón Velázquez; M Pilar Poo; Carmen Fons; M Mar O'Callaghan; Angels García-Cazorla; Cristina Boix; Bernabé Robles; Francisco Carratalá; Marisa Girós; Paz Briones; Laura Gort; Rafael Artuch; Celia Pérez-Cerdá; Jaak Jaeken; Belén Pérez; Belén Pérez-Dueñas
Journal:  Orphanet J Rare Dis       Date:  2015-10-26       Impact factor: 4.123

4.  GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

Authors:  Maria E de la Morena-Barrio; Trinidad Hernández-Caselles; Javier Corral; Roberto García-López; Irene Martínez-Martínez; Belen Pérez-Dueñas; Carmen Altisent; Teresa Sevivas; Soren R Kristensen; Encarna Guillén-Navarro; Antonia Miñano; Vicente Vicente; Jaak Jaeken; Maria L Lozano
Journal:  Orphanet J Rare Dis       Date:  2013-10-20       Impact factor: 4.123
  4 in total

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