Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

by Luca Pollini, Manuela Tolve, Francesca Nardecchia, Serena Galosi, Claudia Carducci, Emanuele di Carlo, Carla Carducci, Vincenzo Leuzzi
Published 2020-03-01

Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria

by Barbara Trimarco, Filippo Manti, Francesca Nardecchia, Sergio Melogno, Mara Testa, Giovanni Meledandri, Claudia Carducci, Roberta Penge, Vincenzo Leuzzi
Published 2020-06-01

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

by Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati, Barbara Garavaglia, Daniele Ghezzi, Daniele Ghezzi, Vincenzo Leuzzi
Published 2018-12-01

Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency

by Luigia Rossi, Francesca Nardecchia, Francesca Pierigè, Rossella Ventura, Claudia Carducci, Vincenzo Leuzzi, Mauro Magnani, Simona Cabib, Tiziana Pascucci
Published 2021-08-01

Targeting mGlu5 Metabotropic Glutamate Receptors in the Treatment of Cognitive Dysfunction in a Mouse Model of Phenylketonuria

by Francesca Nardecchia, Francesca Nardecchia, Rosamaria Orlando, Luisa Iacovelli, Marco Colamartino, Elena Fiori, Vincenzo Leuzzi, Sonia Piccinin, Sonia Piccinin, Robert Nistico, Stefano Puglisi-Allegra, Stefano Puglisi-Allegra, Luisa Di Menna, Giuseppe Battaglia, Ferdinando Nicoletti, Ferdinando Nicoletti, Tiziana Pascucci, Tiziana Pascucci
Published 2018-03-01

Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples

by Cristina Romani, Filippo Manti, Francesca Nardecchia, Federica Valentini, Nicoletta Fallarino, Claudia Carducci, Sabrina De Leo, Anita MacDonald, Liana Palermo, Vincenzo Leuzzi
Published 2020-10-01

Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels

by Cristina Romani, Filippo Manti, Francesca Nardecchia, Federica Valentini, Nicoletta Fallarino, Claudia Carducci, Sabrina De Leo, Anita MacDonald, Liana Palermo, Vincenzo Leuzzi
Published 2019-11-01

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

by Danique van Vliet, Annemiek M.J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Kari Casas, Bozena Didycz, Maja Djordjevic, Jozef L. Hertecant, Vincenzo Leuzzi, Per Mathisen, Francesca Nardecchia, Kimberly K. Powell, Frank Rutsch, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Published 2019-10-01

Can untreated PKU patients escape from intellectual disability? A systematic review

by Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Published 2018-08-01