Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study von Nardecchia, Francesca, Manti, Filippo, Chiarotti, Flavia, Carducci, Claudia, Carducci, Carla, Leuzzi, Vincenzo

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Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation von Bregalda, Alessandro, Carducci, Claudia, Viscomi, Maria Teresa, Pierigè, Francesca, Biagiotti, Sara, Menotta, Michele, Biancucci, Federica, Pascucci, Tiziana, Leuzzi, Vincenzo, Magnani, Mauro, Rossi, Luigia

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Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels von Romani, Cristina, Manti, Filippo, Nardecchia, Francesca, Valentini, Federica, Fallarino, Nicoletta, Carducci, Claudia, De Leo, Sabrina, MacDonald, Anita, Palermo, Liana, Leuzzi, Vincenzo

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Granulocytic myeloid derived suppressor cells expansion during active pulmonary tuberculosis is associated with high nitric oxide plasma level von El Daker, Sary, Sacchi, Alessandra, Tempestilli, Massimo, Carducci, Claudia, Goletti, Delia, Vanini, Valentina, Colizzi, Vittorio, Lauria, Francesco Nicola, Martini, Federico, Martino, Angelo

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Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants von Cursio, Ida, Siliquini, Sabrina, Carducci, Claudia, Bisello, Giovanni, Mastrangelo, Mario, Leuzzi, Vincenzo, Bertoldi, Mariarita, Marini, Carla

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

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Early Energy Intake and Amino Acid Profile in Preterm Newborns: A Quasi-Experimental Study von Boscarino, Giovanni, Carducci, Claudia, Conti, Maria Giulia, Podagrosi, Maria, Gigliello, Annamaria, Di Chiara, Maria, Bartolucci, Monica, Brunelli, Roberto, Parisi, Pasquale, Angeloni, Antonio, Terrin, Gianluca

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Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency von Carducci, Claudia, Santagata, Silvia, Friedman, Jennifer, Pasquini, Elisabetta, Carducci, Carla, Tolve, Manuela, Angeloni, Antonio, Leuzzi, Vincenzo

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Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples von Romani, Cristina, Manti, Filippo, Nardecchia, Francesca, Valentini, Federica, Fallarino, Nicoletta, Carducci, Claudia, De Leo, Sabrina, MacDonald, Anita, Palermo, Liana, Leuzzi, Vincenzo

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A Systematic Review on Autism and Hyperserotonemia: State-of-the-Art, Limitations, and Future Directions von Esposito, Dario, Cruciani, Gianluca, Zaccaro, Laura, Di Carlo, Emanuele, Spitoni, Grazia Fernanda, Manti, Filippo, Carducci, Claudia, Fiori, Elena, Leuzzi, Vincenzo, Pascucci, Tiziana

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Creatine Levels in Patients with Phenylketonuria and Mild Hyperphenylalaninemia: A Pilot Study von Verduci, Elvira, Carbone, Maria Teresa, Fiori, Laura, Gualdi, Claudia, Banderali, Giuseppe, Carducci, Claudia, Leuzzi, Vincenzo, Biasucci, Giacomo, Zuccotti, Gian Vincenzo

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Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male von Pollini, Luca, Tolve, Manuela, Nardecchia, Francesca, Galosi, Serena, Carducci, Claudia, di Carlo, Emanuele, Carducci, Carla, Leuzzi, Vincenzo

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

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In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited di... von Carducci, Claudia, Carducci, Carla, Santagata, Silvia, Adriano, Enrico, Artiola, Cristiana, Thellung, Stefano, Gatta, Elena, Robello, Mauro, Florio, Tullio, Antonozzi, Italo, Leuzzi, Vincenzo, Balestrino, Maurizio

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Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia von Pascucci, Tiziana, Giacovazzo, Giacomo, Andolina, Diego, Accoto, Alessandra, Fiori, Elena, Ventura, Rossella, Orsini, Cristina, Conversi, David, Carducci, Claudia, Leuzzi, Vincenzo, Puglisi-Allegra, Stefano

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A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment von Celato, Andrea, Mitola, Chiara, Tolve, Manuela, Giannini, Maria Teresa, De Leo, Sabrina, Carducci, Claudia, Carducci, Carla, Leuzzi, Vincenzo

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Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria von Trimarco, Barbara, Manti, Filippo, Nardecchia, Francesca, Melogno, Sergio, Testa, Mara, Meledandri, Giovanni, Carducci, Claudia, Penge, Roberta, Leuzzi, Vincenzo

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Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry von Carducci, Claudia, Santagata, Silvia, Leuzzi, Vincenzo, Carducci, Carla, Artiola, Cristiana, Giovanniello, Teresa, Battini, Roberta, Antonozzi, Italo

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Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency von Manti, Filippo, Mastrangelo, Mario, Battini, Roberta, Carducci, Claudia, Spagnoli, Carlotta, Fusco, Carlo, Tolve, Manuela, Carducci, Carla, Leuzzi, Vincenzo

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Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria von Manti, Filippo, Nardecchia, Francesca, De Leo, Sabrina, Carducci, Claudia, Romani, Cristina, Palermo, Liana, Angeloni, Antonio, Leuzzi, Vincenzo

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