Pyridoxal-5(')-phosphate oxidase (PNPO) deficiency presents as a severe neonatal encephalopathy responsive to pyridoxal-5(')-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected genetic variants on PNPO gene whose pathogenic role and clinical expression remain to be established.
Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation / Di Salvo, M.L., Mastrangelo, M., Nogués, I., Tolve, M., Paiardini, A., Carducci, C., Mei, D., Montomoli, M., Tramonti, A., Guerrini, R., Contestabile, R., Leuzzi, V.. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7192. - (2017), pp. 1-8. [10.1016/j.ymgme.2017.08.003]
Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation
DI SALVO, Martino Luigi;MASTRANGELO, Mario;TOLVE, MANUELA;PAIARDINI, ALESSANDRO;CARDUCCI, Carla;TRAMONTI, Angela;CONTESTABILE, Roberto;LEUZZI, Vincenzo
2017
Abstract
Pyridoxal-5(')-phosphate oxidase (PNPO) deficiency presents as a severe neonatal encephalopathy responsive to pyridoxal-5(')-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected genetic variants on PNPO gene whose pathogenic role and clinical expression remain to be established.| File | Dimensione | Formato | |
|---|---|---|---|
|
di Salvo_Pyridoxine-5′-phosphate_2017.pdf
solo gestori archivio
Tipologia:
Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza:
Tutti i diritti riservati (All rights reserved)
Dimensione
3.41 MB
Formato
Adobe PDF
|
3.41 MB | Adobe PDF | Contatta l'autore |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
