Systemic Manifestations in Pyridox(am)ine 5′-Phosphate Oxidase Deficiency

OBJECTIVE: Pyridoxine is converted to its biologically active form pyridoxal-5-phosphate (P5P) by the enzyme pyridox(am)ine 5′-phosphate oxidase and serves as a cofactor in nearly 200 reactions in the central nervous system. Pyridox(am)ine 5′-phosphate oxidase deficiency leads to P5P dependent epile...

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Vydáno v:Pediatr Neurol
Hlavní autoři: Guerriero, Réjean M., Patel, Archana A., Walsh, Brian, Baumer, Fiona M., Shah, Ankoor S., Peters, Jurriaan M., Rodan, Lance H., Agrawal, Pankaj B., Pearl, Phillip L., Takeoka, Masanori
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6008785/
https://ncbi.nlm.nih.gov/pubmed/28985901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2017.05.024
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