Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant.

Spagnoli, C; Pavlidis, E; Salerno, G G; Koskinen, L; Kääriäinen, H; Frattini, D; Koskenvuo, J W; Fusco, C.

Afiliação

Spagnoli C; Child Neurology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Pavlidis E; Child Neurology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Salerno GG; Child Neurology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Koskinen L; Blueprint Genetics, Helsinki, Finland.
Kääriäinen H; National Institute for Health and Welfare, Helsinki, Finland.
Frattini D; Child Neurology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Koskenvuo JW; Blueprint Genetics, Helsinki, Finland.
Fusco C; Child Neurology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Eur J Neurol ; 26(4): e45-e46, 2019 04.

Article em En | MEDLINE | ID: mdl-30829456