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

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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

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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

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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

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Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism by Mario Mastrangelo, Manuela Tolve, Cristiana Artiola, Rossella Bove, Claudia Carducci, Carla Carducci, Antonio Angeloni, Francesco Pisani, Vincenzo Leuzzi

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

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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

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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

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

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

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Engineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatine by Marzia Bianchi, Luigia Rossi, Francesca Pierigè, Pietro De Angeli, Mattia Paolo Aliano, Claudia Carducci, Emanuele Di Carlo, Tiziana Pascucci, Francesca Nardecchia, Vincenzo Leuzzi, Mauro Magnani

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3-Methylglutaconic Aciduria Type I Due to <i>AUH</i> Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature by Francesca Nardecchia, Anna Caciotti, Teresa Giovanniello, Sabrina De Leo, Lorenzo Ferri, Serena Galosi, Silvia Santagata, Barbara Torres, Laura Bernardini, Claudia Carducci, Amelia Morrone, Vincenzo Leuzzi

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

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