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Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations

Bachrach, BE; Weinstein, DA; Orho-Melander, Marju LU ; Burgess, A and Wolfsdorf, JI (2002) In Journal of Pediatrics 140(6). p.781-783
Abstract
Although glycogen storage disease type 0 (GSD0) is included in the differential diagnosis of ketotic hypoglycemia, it usually is not considered in the evaluation of glucosuria or hyperglycemia. We describe two children with GSD0, confirmed by mutation analysis, who had glucosuria and hyperglycemia. Because of the variable presentation of this disorder and previous dependence on liver biopsy to confirm diagnosis, it is likely that GSD0 is underdiagnosed.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Pediatrics
volume
140
issue
6
pages
781 - 783
publisher
Academic Press
external identifiers
  • wos:000176520300027
  • pmid:12072888
  • scopus:0036085512
ISSN
1097-6833
DOI
10.1067/mpd.2002.124317
language
English
LU publication?
yes
id
1cef7c1f-0d06-4f53-9075-6e3bfe426521 (old id 334486)
date added to LUP
2007-08-08 08:30:45
date last changed
2017-11-12 03:20:44
@article{1cef7c1f-0d06-4f53-9075-6e3bfe426521,
  abstract     = {Although glycogen storage disease type 0 (GSD0) is included in the differential diagnosis of ketotic hypoglycemia, it usually is not considered in the evaluation of glucosuria or hyperglycemia. We describe two children with GSD0, confirmed by mutation analysis, who had glucosuria and hyperglycemia. Because of the variable presentation of this disorder and previous dependence on liver biopsy to confirm diagnosis, it is likely that GSD0 is underdiagnosed.},
  author       = {Bachrach, BE and Weinstein, DA and Orho-Melander, Marju and Burgess, A and Wolfsdorf, JI},
  issn         = {1097-6833},
  language     = {eng},
  number       = {6},
  pages        = {781--783},
  publisher    = {Academic Press},
  series       = {Journal of Pediatrics},
  title        = {Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations},
  url          = {http://dx.doi.org/10.1067/mpd.2002.124317},
  volume       = {140},
  year         = {2002},
}