Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient

Vuillaumier-Barrot, S; Schiff, M; Mattioli, F; Schaefer, E; Dupont, A; Dancourt, J; Dupre, T; Couvineau, A; de Baulny, HO; de Lonlay, P; Seta, N; Moore, S; Chantret, I

Vuillaumier-Barrot, S (reprint author), Hop Bichat Claude Bernard, AP HP, Biochim, Paris, France.

PEDIATRIC RESEARCH, 2019; 85 (3): 384

Abstract

BACKGROUND: Congenital disorders of glycosylation (CDG) includes ALG8 deficiency, a protein N-glycosylation defect with a broad clinical spectrum. If ......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索