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, Martino Luigi; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo. - 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 | |
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