Buchumschlag

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

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.

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Häberle, Johannes (VerfasserIn) , Shahbeck, Noora (VerfasserIn) , Ibrahim, Khalid (VerfasserIn) , Hoffmann, Georg F. (VerfasserIn) , Ben-Omran, Tawfeg (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2011
In: Molecular genetics and metabolism
Year: 2011, Jahrgang: 103, Heft: 1, Pages: 89-91
ISSN:1096-7206
DOI:10.1016/j.ymgme.2011.02.001
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ymgme.2011.02.001
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1096719211000448
Volltext
Verfasserangaben:Johannes Häberle, Noora Shahbeck, Khalid Ibrahim, Georg F. Hoffmann, Tawfeg Ben-Omran
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 25.07.2022
Beschreibung:Online Resource
ISSN:1096-7206
DOI:10.1016/j.ymgme.2011.02.001

Ähnliche Einträge