Published 2010
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ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy
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Abstract
Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha-aminoadipic semialdehyde (a-AASA) concentration and mutational analysis of the ALDH7A1 gene that encodes antiquitin.Files
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- PNB-24-62
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2010When the item was originally created.