1. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein retracted nipples, unexplained liver fibrosis, and decreased coagulation factor XI and antisyndrome type;E, Van Schaftingen; J, Jaeken;I. FEBS Lett,1995
2. The carbohydrate-deficient glycoprotein syndrome: a new inherited multisystemic thrombin III. However, as said above, dysmorphic features may be minimal and it seems disease with severe nervous system involvement;Jaeken, J.; Stibler, H.; Hagberg, B.;Acta Paediatr Scand Suppl,1991
3. The carbohydrate-deficient glythat even significant encephalopathy may be absent. Some patients have received a diagnosis coprotein syndromes: an overview;Jaeken, J.; Carchon, H.;J Inherited Metabol Dis,1993
4. The carbohydrate-deficient ofleprechaunism, lipodystrophy, Smith-LemliOpitz syndrome, a peroxisomal disorder, or Marfan syndrome. Owing to the partial thyroxine binding globulin deficiency, some ofthese glycoprotein syndromes: pre-Golgi and Golgi disorders?;Jaeken, J.; Carchon, H.; Stibler, H.;Glycobiology,1993
5. Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease;Stibler, H.; Blennow, G.; Kristiansson, B.; Lindehammer, H.; Hagberg, B.;J Neurol Neurosurg Psychiatry,1994