Article
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
Pediatrics - 1 Oct 2012
Morava Eva, Vodopiutz Julia, Lefeber Dirk J, Janecke Andreas R, Schmidt Wolfgang M, Lechner Silvia, Item Chike B, Sykut-Cegielska Jolanta, Adamowicz Maciej, Wierzba Jolanta, Zhang Zong H, Mihalek Ivana, Stockler Sylvia, Bodamer Olaf A, Lehle Ludwig, Wevers Ron A
Abstract excerpt
Deficiency of β-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Features in 9 patients reported previously consisted of prenatal growth retardation, pregnancy-induced maternal hypertension and fetal hydrops. Four patients died before 5 years of age, and survivors showed a severe psychomotor retardation. We report on 7 patients with psychomotor delay,...
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