@article{46608cfe0fb64c849ca384b8b84c5739,
title = "Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology",
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 = "Bone Diseases, Metabolic, Cataract, Central Nervous System Diseases, Congenital Disorders of Glycosylation/diagnosis, Fatal Outcome, Humans, Infant, Newborn, Liver Diseases, Protein-Losing Enteropathies",
author = "Eklund, {Erik A} and Liangwu Sun and Vibeke Westphal and Northrop, {Jennifer L} and Freeze, {Hudson H} and Fernando Scaglia",
year = "2005",
doi = "10.1016/j.jpeds.2005.07.042",
language = "English",
volume = "147",
pages = "847--50",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Academic Press",
number = "6",
}