Diagnostic dilemma's: the congenital disorders of glycosylation are clinical chameleons.
Coman
David J
DJ
Department of Paediatrics, University of Melbourne, Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Victoria 3052, Australia. david.coman@ghsv.org.au
D003483:Cutis Laxa / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D005808:Genes, Recessive; D006031:Glycosylation; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D010641:Phenotype