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

Pascale De Lonlay ,J M Saudubray,B Chabrol,A Leroy,Hubert Journel ,B Gabriel ,Martine Le Merrer ,J Laurent ,Michel Kretz ,Sandrine Vuillaumier Barrot ,Gert Matthijs ,J Schmitz ,Emile Van Schaftingen ,Christian Körner ,Nathalie Seta ,V Drouin ,Jaak Jaeken ,A Munnich ,Nathalie Villeneuve ,Pierre Sarda ,D Pedespan ,Valérie Cormier‐Daire

doi:10.1136/jmg.38.1.14

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

Pascale De Lonlay , J M Saudubray + Show 20 more

Open Access

https://doi.org/10.1136/jmg.38.1.14

Copy DOI

Journal: Journal of Medical Genetics	Publication Date: Jan 1, 2001
Citations: 216

Affiliation: Hôpital Saint-Vincent-de-Paul, Hôpital Necker-Enfants Malades, Hôpital des Enfants, Hôpital Bichat-Claude-Bernard

#CDG Ia #Congenital Disorders Of Glycosylation + Show 8 more

Abstract
Full-Text PDF
Similar Papers

Abstract

INTRODUCTIONCongenital 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.METHODSWe report the clinical,...

Full Text