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Serial Magnetic Resonance Imaging and (1)H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report
Gamma-aminobutyric acid transaminase (GABA-T) deficiency is a rare, autosomal recessive disorder characterized by severe psychomotor retardation, early-onset epileptic encephalopathy, intractable seizures, hypotonia, and hyperreflexia. The disease is caused by mutation in the 4-aminobutyrate aminotr...
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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6323023/ https://ncbi.nlm.nih.gov/pubmed/29478219 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_95 |
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