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:
| Hauptverfasser: | , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2011
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| 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 
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| Verfasserangaben: | Johannes Häberle, Noora Shahbeck, Khalid Ibrahim, Georg F. Hoffmann, Tawfeg Ben-Omran |
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| 520 | |a 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. | ||
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