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.
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.
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.
| 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 |
| Scopus Subject Areas: | Health Sciences > Endocrinology, Diabetes and Metabolism
Life Sciences > Biochemistry Life Sciences > Molecular Biology Life Sciences > Genetics Life Sciences > Endocrinology |
| Language: | English |
| Date: | May 2011 |
| Deposited On: | 26 Feb 2012 09:21 |
| Last Modified: | 23 Jan 2022 21:22 |
| Publisher: | Elsevier |
| ISSN: | 1096-7192 |
| OA Status: | Closed |
| Publisher DOI: | https://doi.org/10.1016/j.ymgme.2011.02.001 |
| PubMed ID: | 21353613 |
Häberle, J