Article
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.
Journal of medical genetics - 1 Jan 2001
de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel B M, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray J M, Cormier-Daire V
Abstract excerpt
INTRODUCTION: Congenital disorders of glycosylation (CDG), or carbohydrate deficient glycoprotein syndromes, form a new group of multisystem disorders characterised by defective glycoprotein biosynthesis, ascribed to various biochemical mechanisms. METHODS: We report the clinical, biological, and molecular analysis of 26 CDG I patients, including 20 CDG Ia, two CDG Ib, one CDG Ic, and three CDG Ix, detected by...
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