Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.

Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute, La Jolla, California 92037, USA.
Journal of Pediatrics (Impact Factor: 3.74). 01/2006; 147(6):847-50. DOI: 10.1016/j.jpeds.2005.07.042
Source: PubMed

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.

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