Document Detail


Natural course of glutamine synthetase deficiency in a 3year old patient.
MedLine Citation:
PMID:  21353613     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Glutamine deficiency with hyperammonemia due to an inherited defect of glutamine synthetase (GS) was found in a 2year old patient. He presented neonatal seizures and developed chronic encephalopathy. Thus, GS deficiency leads to severe neurological disease but is not always early lethal.
Authors:
Johannes Häberle; Noora Shahbeck; Khalid Ibrahim; Georg F Hoffmann; Tawfeg Ben-Omran
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-2-4
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  -     ISSN:  1096-7206     ISO Abbreviation:  -     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-2-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Elsevier Inc. All rights reserved.
Affiliation:
University Children's Hospital Zurich, Division of Metabolism, 8032 Zürich, Switzerland.
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