Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/46608cfe-0fb6-4c84-9ca3-84b8b84c5739
- author
- Eklund, Erik A LU ; Sun, Liangwu ; Westphal, Vibeke ; Northrop, Jennifer L ; Freeze, Hudson H and Scaglia, Fernando
- publishing date
- 2005
- 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}}, }