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Natural course of glutamine synthetase deficiency in a 3 year old patient


Häberle, J; Shahbeck, N; Ibrahim, K; Hoffmann, G F; Ben-Omran, Ta (2011). Natural course of glutamine synthetase deficiency in a 3 year old patient. Molecular Genetics and Metabolism, 103(1):89-91.

Abstract

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.

Abstract

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.

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21 citations in Web of Science®
24 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:May 2011
Deposited On:26 Feb 2012 09:21
Last Modified:05 Apr 2016 15:39
Publisher:Elsevier
ISSN:1096-7192
Publisher DOI:https://doi.org/10.1016/j.ymgme.2011.02.001
PubMed ID:21353613

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