A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
P de Lonlay, N Seta, S Barrot, B Chabrol, V Drouin, B M Gabriel, H Journel, M Kretz, J Laurent, M Le Merrer, A Leroy, D Pedespan, P Sarda, N Villeneuve, J Schmitz, E van Schaftingen, G Matthijs, J Jaeken, C Korner, A Munnich, J M Saudubray, V Cormier-Daire
Journal of Medical Genetics Jan 2001, 38 (1) 14-19; DOI: 10.1136/jmg.38.1.14
