Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)

PNPO deficiency is responsible of severe neonatal encephalopathy, responsive to pyridoxal-5′-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected new genetic variants on PNPO gene, whose pathogenetic role and clinical expression remain to be established....

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Detalles Bibliográficos
Autores principales: di Salvo, Martino L., Mastrangelo, Mario, Nogués, Isabel, Tolve, Manuela, Paiardini, Alessandro, Carducci, Carla, Mei, Davide, Montomoli, Martino, Tramonti, Angela, Guerrini, Renzo, Contestabile, Roberto, Leuzzi, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Genetics, Genomics and Molecular Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779537/
https://www.ncbi.nlm.nih.gov/pubmed/29379851
http://dx.doi.org/10.1016/j.dib.2017.10.032

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779537/
https://www.ncbi.nlm.nih.gov/pubmed/29379851
http://dx.doi.org/10.1016/j.dib.2017.10.032

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