Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.
作者信息
Eklund Erik A, Sun Liangwu, Westphal Vibeke, Northrop Jennifer L, Freeze Hudson H, Scaglia Fernando
机构信息
Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute, La Jolla, California 92037, USA.
出版信息
J Pediatr. 2005 Dec;147(6):847-50. doi: 10.1016/j.jpeds.2005.07.042.
PMID:16356445
Abstract
We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.
摘要
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