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Timing of Therapy and Neurodevelopmental Outcomes in 18 Families with Pyridoxine-Dependent Epilepsy

Laura A. Tseng,Jose E. Abdenur,Ashley Andrews,Verena G. Aziz,Levinus A. Bok,Monica Boyer,Daniela Buhas,Hans Hartmann,Emma J. Footitt,Sabine Gronborg,Mirian C. H. Janssen,Nicola Longo,Roelineke J. Lunsing, Alex E. MacKenzie,Frits A. Wijburg,Sidney M. Gospe,Curtis R. Coughlin,Clara D. M. van Karnebeek

Molecular Genetics and Metabolism（2022）

Cited 11|Views37
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Key words
Pyridoxine-dependent epilepsy,PDE-ALDH7A1,Lysine reduction therapies,Lysine-restricted diet,Arginine supplementation,Sibling study,Neurodevelopmental outcome
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