Article révisé par les pairs
Titre:
  • COG5-CDG: Expanding the clinical spectrum
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

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