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

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Publication date

January 2017

DOI

10.1016/j.ymgme.2017.08.003

Publisher

Elsevier BV

ISSN

1096-7192

Citation count (estimate)

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

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Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation

Abstract

Extracted data

Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation

Abstract

Extracted data

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