par Rymen, Daisy;Keldermans, Liesbeth;Race, Valérie;Régal, Luc;Deconinck, Nicolas 
;Dionisi-Vici, Carlo;Fung, Cheuk-Wing;Sturiale, Luisa;Rosnoblet, Claire;Foulquier, Francois;Matthijs, Gert;Jaeken, Jaak
Référence Orphanet journal of rare diseases, 7, 1, 94
Publication Publié, 2012
;Dionisi-Vici, Carlo;Fung, Cheuk-Wing;Sturiale, Luisa;Rosnoblet, Claire;Foulquier, Francois;Matthijs, Gert;Jaeken, JaakRéférence Orphanet journal of rare diseases, 7, 1, 94
Publication Publié, 2012
Article révisé par les pairs
| Titre: |
|
| Auteur: | Rymen, Daisy; Keldermans, Liesbeth; Race, Valérie; Régal, Luc; Deconinck, Nicolas; Dionisi-Vici, Carlo; Fung, Cheuk-Wing; Sturiale, Luisa; Rosnoblet, Claire; Foulquier, Francois; Matthijs, Gert; Jaeken, Jaak |
| Informations sur la publication: | Orphanet journal of rare diseases, 7, 1, 94 |
| Statut de publication: | Publié, 2012 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| Pharmacologie | |
| Génétique clinique | |
| Mots-clés: | CDG-II |
| COG5 | |
| Conserved oligomeric golgi complex | |
| Glycan analysis | |
| Glycosylation | |
| Trafficking | |
| MeSH keywords: | Adaptor Proteins, Vesicular Transport -- genetics -- metabolism |
| Adolescent | |
| Adult | |
| Child | |
| Child, Preschool | |
| Congenital Disorders of Glycosylation -- diagnosis -- genetics -- physiopathology | |
| Female | |
| Humans | |
| Male | |
| Mutation | |
| Phenotype | |
| Severity of Illness Index | |
| Young Adult | |
| Note générale: | SCOPUS: ar.j |
| Langue: | Anglais |
| Identificateurs: | urn:issn:1750-1172 |
| info:doi/10.1186/1750-1172-7-94 | |
| info:pii/1750-1172-7-94 | |
| info:scp/84879857014 | |
| info:pmid/23228021 | |
| PMC3697985 |
