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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

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de Lonlay, P Seta, N Barrot, S Chabrol, B Drouin, V Van Schaftingen, Emile [UCL] Cormier-Daire, V

Owing to the remarkable clinical variability of CDG, this novel disease probably remains largely underdiagnosed. The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2001
Language Anglais
Journal information "Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics" - Vol. 38, no.1, p. 14-9 (2001)
Peer reviewed yes
Publisher B M J Group ((United Kingdom) London)
issn 0022-2593
e-issn 1468-6244
Publication status Publié
Affiliation UCL - MD/BICL - Département de biochimie et de biologie cellulaire
MESH Subject Adipose Tissue ; Humans ; Infant ; Male ; Mutation ; Nipples ; Phosphotransferases (Phosphomutases) ; Psychomotor Disorders ; Transferrin ; Adolescent ; Adult ; Child ; Child, Preschool ; Congenital Disorders of Glycosylation ; Face ; Female ; Glycoproteins
Keywords CDG ; Phosphomannomutase ; Phosphomannose isomerase ; Dolichyl-phosphate glucose ; Mannose 9 N-acetylglycosamine 2 glucosylcronferase
Links
Bibliographic reference de Lonlay, P ; Seta, N ; Barrot, S ; Chabrol, B ; Drouin, V ; et. al. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.. In: Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics, Vol. 38, no.1, p. 14-9 (2001)
Permanent URL http://hdl.handle.net/2078.1/131952