Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation

Autor: 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
Zdroj: In Molecular Genetics and Metabolism September 2017 122(1-2):135-142
Databáze: ScienceDirect
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