Excerpt | Relevance | Reference |
"We report intermittent seizures, lethargy, and Cohen's syndrome in a 4-year-old girl with hyper-beta-alaninemia and a partial deficiency of beta-alanyl-alpha-ketoglutarate transaminase (AKT)." | 7.69 | Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen's syndrome. ( Barton, NW; Bernardini, I; Brady, RO; Higgins, JJ; Kaneski, CR, 1994) |
"We report intermittent seizures, lethargy, and Cohen's syndrome in a 4-year-old girl with hyper-beta-alaninemia and a partial deficiency of beta-alanyl-alpha-ketoglutarate transaminase (AKT)." | 3.69 | Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen's syndrome. ( Barton, NW; Bernardini, I; Brady, RO; Higgins, JJ; Kaneski, CR, 1994) |