Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from
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Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes
β Scribed by Daniel Rocha Carvalho; Guilherme Dotto Brand; Jaime Moritz Brum; Reinaldo Issao Takata; Carlos Eduardo Speck-Martins; Riccardo Pratesi
- Book ID
- 119241343
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 805 KB
- Volume
- 509
- Category
- Article
- ISSN
- 0378-1119
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