A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing
Crossref DOI link: https://doi.org/10.1186/s13052-017-0383-7
Published Online: 2017-08-02
Published Print: 2017-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Macchiaiolo, Marina
Barresi, Sabina
Cecconi, Francesco
Zanni, Ginevra
Niceta, Marcello
Bellacchio, Emanuele
Lazzarino, Giacomo
Amorini, Angela Maria
Bertini, Enrico Silvio
Rizza, Salvatore
Contardi, Benedetta
Tartaglia, Marco
Bartuli, Andrea