Journal
MOLECULAR GENETICS AND METABOLISM
Volume 103, Issue 1, Pages 89-91Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2011.02.001
Keywords
Glutamine synthetase; Chronic encephalopathy; Neonatal onset seizures; Hyperammonemia; Arab; Qatar consanguinity
Ask authors/readers for more resources
Glutamine deficiency with hyperammonemia due to an inherited defect of glutamine synthetase (GS) was found in a 2 year old patient. He presented neonatal seizures and developed chronic encephalopathy. Thus, GS deficiency leads to severe neurological disease but is not always early lethal. (C) 2011 Elsevier Inc. All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available
Share Paper
