Pubblicazioni

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

2017 - ORPHANET JOURNAL OF RARE DISEASES

Wassenberg, Tessa; Molero Luis, Marta; Jeltsch, Kathrin; Hoffmann, Georg F.; Assmann, Birgit; Blau, Nenad; Garcia Cazorla, Angeles; Artuch, Rafael; Pons, Roser; Pearson, Toni S.; Leuzzi, Vincenco; Mastrangelo, Mario; Pearl, Phillip L.; Lee, Wang Tso; Kurian, Manju A.; Heales, Simon; Flint, Lisa; Verbeek, Marcel; Willemsen, MichÃ¨l; Opladen, Thomas

ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T

2017 - ORPHANET JOURNAL OF RARE DISEASES

Menotta, Michele; Biagiotti, Sara; Spapperi, Chiara; Orazi, Sara; Rossi, Luigia; Chessa, Luciana; Leuzzi, Vincenzo; D'Agnano, Daniela; Soresina, Annarosa; Micheli, Roberto; Magnani, Mauro

Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-Ã-cyclodextrin

2015 - ORPHANET JOURNAL OF RARE DISEASES

Palladino, Giampiero; Loizzo, Stefano; Fortuna, Andrea; Canterini, Sonia; Palombi, Fioretta; Erickson, Robert Porter; Mangia, Franco; Fiorenza, Maria Teresa

Pubblicazioni

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T

Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-Ã-cyclodextrin

Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-Ã-cyclodextrin