Succinic semialdehyde dehydrogenase deficiency in children and adults
β Scribed by Phillip L. Pearl; Edward J. Novotny; Maria T. Acosta; Cornelis Jakobs; K. Michael Gibson
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 151 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0364-5134
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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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