DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings

por Fino, Edoardo, Barbato, Alessandro, Scaturro, Giusi M., Procopio, Elena, Balestrini, Simona
Publicado 2023

Communicating a Positive Result at Newborn Screening and Parental Distress

por Lastrucci, Elisa, Daniotti, Marta, Procopio, Elena, Scaturro, Giusi, Tubili, Flavia, Martin, Rosanna, la Marca, Giancarlo
Publicado 2023