Article
[Jaeken's (CDG) syndrome in two sisters].
Pediatria polska - 1 Jul 1996
Midro A T, Hanefeld F, Zadrozna-Tołwińska B, Stibler H, Olchowik B, Stasiewicz-Jarocka B
Abstract excerpt
Jaeken's syndrome or the carbohydrate-deficient glycoprotein (CDG) syndrome, is a newly recognized metabolic syndrome with poor weight gain in children, and multisystematic abnormalities, mainly due to defective carbohydrate entities in many glycoproteins, leading to neurologic dysfunction. Using the standardized method of phenotype evaluation with computer assistance according to the Munich Dysmorphologic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
