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

por Nasca, Alessia, Nardecchia, Francesca, Commone, Anna, Semeraro, Michela, Legati, Andrea, Garavaglia, Barbara, Ghezzi, Daniele, Leuzzi, Vincenzo
Publicado 2018

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

por Pollini, Luca, Tolve, Manuela, Nardecchia, Francesca, Galosi, Serena, Carducci, Claudia, di Carlo, Emanuele, Carducci, Carla, Leuzzi, Vincenzo
Publicado 2020

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

por Trimarco, Barbara, Manti, Filippo, Nardecchia, Francesca, Melogno, Sergio, Testa, Mara, Meledandri, Giovanni, Carducci, Claudia, Penge, Roberta, Leuzzi, Vincenzo
Publicado 2020

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

por Rossi, Luigia, Nardecchia, Francesca, Pierigè, Francesca, Ventura, Rossella, Carducci, Claudia, Leuzzi, Vincenzo, Magnani, Mauro, Cabib, Simona, Pascucci, Tiziana
Publicado 2021

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

por Nardecchia, Francesca, De Giorgi, Agnese, Palombo, Flavia, Fiorini, Claudio, De Negri, Anna M., Carelli, Valerio, Caporali, Leonardo, Leuzzi, Vincenzo
Publicado 2020

Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC‐Deficient Patient

por Nardecchia, Francesca, Bove, Rossella, Pollini, Luca, Giannini, Maria Teresa, Manti, Filippo, De Giorgi, Agnese, Papoff, Paola, Martinelli, Simone, Leuzzi, Vincenzo
Publicado 2023

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

por Romani, Cristina, Manti, Filippo, Nardecchia, Francesca, Valentini, Federica, Fallarino, Nicoletta, Carducci, Claudia, De Leo, Sabrina, MacDonald, Anita, Palermo, Liana, Leuzzi, Vincenzo
Publicado 2019

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

por Romani, Cristina, Manti, Filippo, Nardecchia, Francesca, Valentini, Federica, Fallarino, Nicoletta, Carducci, Claudia, De Leo, Sabrina, MacDonald, Anita, Palermo, Liana, Leuzzi, Vincenzo
Publicado 2020

Engineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatine

por Bianchi, Marzia, Rossi, Luigia, Pierigè, Francesca, De Angeli, Pietro, Aliano, Mattia Paolo, Carducci, Claudia, Di Carlo, Emanuele, Pascucci, Tiziana, Nardecchia, Francesca, Leuzzi, Vincenzo, Magnani, Mauro
Publicado 2022

3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature

por Nardecchia, Francesca, Caciotti, Anna, Giovanniello, Teresa, De Leo, Sabrina, Ferri, Lorenzo, Galosi, Serena, Santagata, Silvia, Torres, Barbara, Bernardini, Laura, Carducci, Claudia, Morrone, Amelia, Leuzzi, Vincenzo
Publicado 2022

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

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

The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans

por Pannone, Luca, Muto, Valentina, Nardecchia, Francesca, Di Rocco, Martina, Marchei, Emilia, Tosato, Federica, Petrini, Stefania, Onorato, Giada, Lanza, Enrico, Bertuccini, Lucia, Manti, Filippo, Folli, Viola, Galosi, Serena, Di Schiavi, Elia, Leuzzi, Vincenzo, Tartaglia, Marco, Martinelli, Simone
Publicado 2023

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

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

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

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

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

por Ruoppolo, Margherita, Malvagia, Sabrina, Boenzi, Sara, Carducci, Carla, Dionisi-Vici, Carlo, Teofoli, Francesca, Burlina, Alberto, Angeloni, Antonio, Aronica, Tommaso, Bordugo, Andrea, Bucci, Ines, Camilot, Marta, Carbone, Maria Teresa, Cardinali, Roberta, Carducci, Claudia, Cassanello, Michela, Castana, Cinzia, Cazzorla, Chiara, Ciatti, Renzo, Ferrari, Simona, Frisso, Giulia, Funghini, Silvia, Furlan, Francesca, Gasperini, Serena, Gragnaniello, Vincenza, Guzzetti, Chiara, La Marca, Giancarlo, La Spina, Luisa, Lorè, Tania, Meli, Concetta, Messina, MariaAnna, Morrone, Amelia, Nardecchia, Francesca, Ortolano, Rita, Parenti, Giancarlo, Pavanello, Enza, Pieragostino, Damiana, Pillai, Sara, Porta, Francesco, Righetti, Francesca, Rossi, Claudia, Rovelli, Valentina, Salina, Alessandro, Santoro, Laura, Sauro, Pina, Schiaffino, Maria Cristina, Simonetti, Simonetta, Vincenzi, Monica, Tarsi, Elisabetta, Uccheddu, Anna Paola
Publicado 2022