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

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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Bibliographic Details
Published in:The Journal of pediatrics 2005-12, Vol.147 (6), p.847-850
Main Authors: Eklund, Erik A., Sun, Liangwu, Westphal, Vibeke, Northrop, Jennifer L., Freeze, Hudson H., Scaglia, Fernando
Format: Article
Language:English
Subjects:
Biological and medical sciences
Bone Diseases, Metabolic
Cataract
Central Nervous System Diseases
Congenital Disorders of Glycosylation - diagnosis
Congenital Disorders of Glycosylation - genetics
Congenital Disorders of Glycosylation - metabolism
Fatal Outcome
General aspects
Humans
Infant, Newborn
Liver Diseases
Medical sciences
Protein-Losing Enteropathies
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Description
Summary: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2005.07.042