Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10091417 | The Journal of Pediatrics | 2005 | 4 Pages |
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.
Keywords
Related Topics
Health Sciences
Medicine and Dentistry
Perinatology, Pediatrics and Child Health
Authors
Erik A. MD, PhD, Liangwu PhD, Vibeke PhD, Jennifer L. MD, PhD, Hudson H. PhD, Fernando MD,