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Inherited Disorders of GABA Metabolism and Advances in ALDH5A1 Mutation Identification
BACKGROUND AND OBJECTIVES: Inherited disorders of GABA metabolism include SSADH and GABA-transaminase deficiencies. The clinical features, pathophysiology, diagnosis, and management of both are discussed, including an updated list of ALDH5A1 mutations causing SSADH deficiency. METHODS: Our SSADH pat...
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| Vydáno v: | Dev Med Child Neurol |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2014
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4485983/ https://ncbi.nlm.nih.gov/pubmed/25558043 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/dmcn.12668 |
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