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Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx

Miura, Yoshiaki ; Tay, Stacey K H ; Aw, Marion M ; Eklund, Erik A LU and Freeze, Hudson H (2005) In Journal of Pediatrics 147(6). p.851-853
Abstract

We describe a case of congenital disorder of glycosylation with chronic diarrhea, progressive liver cirrhosis, and recurrent infections. Transferrin analysis showed only hyposialylation, but analysis of total serum N-glycans indicated loss of additional sugars, arguing that the latter generates a more informative picture to search for the primary defect.

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author
; ; ; and
publishing date
type
Contribution to journal
publication status
published
keywords
Brain/abnormalities, Chromatography, High Pressure Liquid, Congenital Disorders of Glycosylation/diagnosis, Glycoproteins/blood, Humans, Liver Cirrhosis/diagnostic imaging, Polysaccharides/blood, Radiography, Spectrometry, Mass, Electrospray Ionization, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Transferrin/metabolism
in
Journal of Pediatrics
volume
147
issue
6
pages
851 - 853
publisher
Academic Press
external identifiers
  • scopus:28844507804
  • pmid:16356446
ISSN
0022-3476
DOI
10.1016/j.jpeds.2005.07.038
language
English
LU publication?
no
id
687efe25-bdb1-4060-9e1c-acab4ab201b9
date added to LUP
2021-10-12 00:02:54
date last changed
2024-10-06 06:57:30
@article{687efe25-bdb1-4060-9e1c-acab4ab201b9,
  abstract     = {{<p>We describe a case of congenital disorder of glycosylation with chronic diarrhea, progressive liver cirrhosis, and recurrent infections. Transferrin analysis showed only hyposialylation, but analysis of total serum N-glycans indicated loss of additional sugars, arguing that the latter generates a more informative picture to search for the primary defect.</p>}},
  author       = {{Miura, Yoshiaki and Tay, Stacey K H and Aw, Marion M and Eklund, Erik A and Freeze, Hudson H}},
  issn         = {{0022-3476}},
  keywords     = {{Brain/abnormalities; Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation/diagnosis; Glycoproteins/blood; Humans; Liver Cirrhosis/diagnostic imaging; Polysaccharides/blood; Radiography; Spectrometry, Mass, Electrospray Ionization; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin/metabolism}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{851--853}},
  publisher    = {{Academic Press}},
  series       = {{Journal of Pediatrics}},
  title        = {{Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx}},
  url          = {{http://dx.doi.org/10.1016/j.jpeds.2005.07.038}},
  doi          = {{10.1016/j.jpeds.2005.07.038}},
  volume       = {{147}},
  year         = {{2005}},
}