PhenomeGene — Human Disease Gene Website SeriesPNPO

Research collaboration

1. We are working on another paper to study the correlation between the genotype and B6. responsiveness.
2. Evaluate the optimal dose of PLP in prenatal cases.
3. Maximum dose of PLP and expected complications to have a clear monitoring plan.
4. Intellectual disability as a long-term outcome after early or late initiation of the therapy.
5. Establishment a NBS-program For PNPO deficiency.