Pyridoxine Responsiveness and PNPO Gene Mutations

Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene.

Saved in:
Bibliographic Details
Main Authors: J Gordon Millichap (Author), John J Millichap (Author)
Format: Book
Published: Pediatric Neurology Briefs Publishers, 2014-06-01T00:00:00Z.
Subjects:
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!