Risultati ricerca pubblicazioni

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthasedeficient patients

pubblicato su: MOLECULAR GENETICS AND METABOLISM - 2020

Manti Filippo, Nardecchia Francesca, Banderali Giuseppe, Burlina Alberto, Carducci Carla, Carducci Claudia, Alice Donati Maria, Gueraldi Daniela, Paci Sabrina, Pochiero Francesca, Porta Francesco, Ortolano Rita, Rovelli Valentina, Cristina Schiaffino Maria, Spada Marco, Blau Nenad, Leuzzi Vincenzo

Aromatic amino acid decarboxylase deficiency. molecular and metabolic basis and therapeutic outlook

pubblicato su: MOLECULAR GENETICS AND METABOLISM - 2019

Himmelreich Nastassja, Montioli Riccardo, Bertoldi Mariarita, Carducci Carla, Leuzzi Vincenzo, Gemperle Corinne, Berner Todd, Hyland Keith, Thöny Beat, Hoffmann Georg F., Voltattorni Carla B., Blau Nenad

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies

pubblicato su: MOLECULAR GENETICS AND METABOLISM - 2019

Montioli Riccardo, Battini Roberta, Paiardini Alessandro, Tolve Manuela, Bertoldi Mariarita, Carducci Carla, Leuzzi Vincenzo, Borri Voltattorni Carla

Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142]

pubblicato su: MOLECULAR GENETICS AND METABOLISM - 2018

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

Neonatal combination therapy for Mucopolysaccharidosis type I: is it greater than the sum of its parts?

pubblicato su: MOLECULAR GENETICS AND METABOLISM - 2020

Santi Ludovica, De Ponti Giada, Dina Giorgia, Pievani Alice, CORSI ALESSANDRO, RIMINUCCI MARA, Khan Shaukat, Sawamoto Kazuki, Antolini Laura, Gregori Silvia, Annoni Andrea, Biondi Andrea, Quattrini Angelo, Tomatsu Shunji, Serafini. Marta

A new therapy prevents intellectual disability in mouse with phenylketonuria

pubblicato su: MOLECULAR GENETICS AND METABOLISM - 2018

Pascucci Tiziana, Rossi Luigia, Colamartino Marco, Gabucci Claudia, Carducci Claudia, Valzania Alessandro, Sasso Valeria, Bigini Noemi, Pierigè Francesca, Viscomi Maria Teresa, Ventura Rossella, Cabib Simona, Magnani Mauro, Puglisi-Allegra Stefano, Leuzzi Vincenzo