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

Eklund, Erik A LU ; Sun, Liangwu ; Westphal, Vibeke ; Northrop, Jennifer L ; Freeze, Hudson H and Scaglia, Fernando (2005) In Journal of Pediatrics 147(6). p.50-847
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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author
; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
keywords
Bone Diseases, Metabolic, Cataract, Central Nervous System Diseases, Congenital Disorders of Glycosylation/diagnosis, Fatal Outcome, Humans, Infant, Newborn, Liver Diseases, Protein-Losing Enteropathies
in
Journal of Pediatrics
volume
147
issue
6
pages
50 - 847
publisher
Academic Press
external identifiers
  • pmid:16356445
  • scopus:28844467101
ISSN
0022-3476
DOI
10.1016/j.jpeds.2005.07.042
language
English
LU publication?
no
id
46608cfe-0fb6-4c84-9ca3-84b8b84c5739
date added to LUP
2021-10-12 00:03:34
date last changed
2024-01-20 14:59:08
@article{46608cfe-0fb6-4c84-9ca3-84b8b84c5739,
  abstract     = {{<p>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.</p>}},
  author       = {{Eklund, Erik A and Sun, Liangwu and Westphal, Vibeke and Northrop, Jennifer L and Freeze, Hudson H and Scaglia, Fernando}},
  issn         = {{0022-3476}},
  keywords     = {{Bone Diseases, Metabolic; Cataract; Central Nervous System Diseases; Congenital Disorders of Glycosylation/diagnosis; Fatal Outcome; Humans; Infant, Newborn; Liver Diseases; Protein-Losing Enteropathies}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{50--847}},
  publisher    = {{Academic Press}},
  series       = {{Journal of Pediatrics}},
  title        = {{Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology}},
  url          = {{http://dx.doi.org/10.1016/j.jpeds.2005.07.042}},
  doi          = {{10.1016/j.jpeds.2005.07.042}},
  volume       = {{147}},
  year         = {{2005}},
}