Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease

od Leuzzi, Vincenzo, Carducci, Claudia, Chiarotti, Flavia, D’Agnano, Daniela, Giannini, Maria Teresa, Antonozzi, Italo, Carducci, Carla
Izdano 2012

Successful Pregnancy in a Patient with L‐Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome

od Mastrangelo, Mario, Manti, Filippo, Patanè, Luisa, Ferrari, Stefania, Carducci, Carla, Carducci, Claudia, Mangili, Giovanna, Leuzzi, Vincenzo
Izdano u Mov Disord Clin Pract (2018)

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

od Pollini, Luca, Tolve, Manuela, Nardecchia, Francesca, Galosi, Serena, Carducci, Claudia, di Carlo, Emanuele, Carducci, Carla, Leuzzi, Vincenzo
Izdano u Mol Genet Metab Rep (2020)

Age-Related Psychophysiological Vulnerability to Phenylalanine in Phenylketonuria

od Leuzzi, Vincenzo, Mannarelli, Daniela, Manti, Filippo, Pauletti, Caterina, Locuratolo, Nicoletta, Carducci, Carla, Carducci, Claudia, Vanacore, Nicola, Fattapposta, Francesco
Izdano 2014

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

od Trimarco, Barbara, Manti, Filippo, Nardecchia, Francesca, Melogno, Sergio, Testa, Mara, Meledandri, Giovanni, Carducci, Claudia, Penge, Roberta, Leuzzi, Vincenzo
Izdano u Mol Genet Metab Rep (2020)

Creatine Levels in Patients with Phenylketonuria and Mild Hyperphenylalaninemia: A Pilot Study

od Verduci, Elvira, Carbone, Maria Teresa, Fiori, Laura, Gualdi, Claudia, Banderali, Giuseppe, Carducci, Claudia, Leuzzi, Vincenzo, Biasucci, Giacomo, Zuccotti, Gian Vincenzo
Izdano u Life (Basel) (2021)

Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test

od Tolve, Manuela, Artiola, Cristiana, Pasquali, Amelia, Giovanniello, Teresa, D’Amici, Sirio, Angeloni, Antonio, Pizzuti, Antonio, Carducci, Claudia, Leuzzi, Vincenzo, Carducci, Carla
Izdano u Methods Protoc (2018)

Granulocytic Myeloid Derived Suppressor Cells Expansion during Active Pulmonary Tuberculosis Is Associated with High Nitric Oxide Plasma Level

od El Daker, Sary, Sacchi, Alessandra, Tempestilli, Massimo, Carducci, Claudia, Goletti, Delia, Vanini, Valentina, Colizzi, Vittorio, Lauria, Francesco Nicola, Martini, Federico, Martino, Angelo
Izdano u PLoS One (2015)

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

od Romani, Cristina, Manti, Filippo, Nardecchia, Francesca, Valentini, Federica, Fallarino, Nicoletta, Carducci, Claudia, De Leo, Sabrina, MacDonald, Anita, Palermo, Liana, Leuzzi, Vincenzo
Izdano u Orphanet J Rare Dis (2019)

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

od Romani, Cristina, Manti, Filippo, Nardecchia, Francesca, Valentini, Federica, Fallarino, Nicoletta, Carducci, Claudia, De Leo, Sabrina, MacDonald, Anita, Palermo, Liana, Leuzzi, Vincenzo
Izdano u Nutrients (2020)

Behavioral and Neurochemical Characterization of New Mouse Model of Hyperphenylalaninemia

od Pascucci, Tiziana, Giacovazzo, Giacomo, Andolina, Diego, Accoto, Alessandra, Fiori, Elena, Ventura, Rossella, Orsini, Cristina, Conversi, David, Carducci, Claudia, Leuzzi, Vincenzo, Puglisi-Allegra, Stefano
Izdano 2013

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...

od Carducci Claudia, Carducci Carla, Santagata Silvia, Adriano Enrico, Artiola Cristiana, Thellung Stefano, Gatta Elena, Robello Mauro, Florio Tullio, Antonozzi Italo, Leuzzi Vincenzo, Balestrino Maurizio
Izdano 2012-04-01

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...

od Carducci, Claudia, Carducci, Carla, Santagata, Silvia, Adriano, Enrico, Artiola, Cristiana, Thellung, Stefano, Gatta, Elena, Robello, Mauro, Florio, Tullio, Antonozzi, Italo, Leuzzi, Vincenzo, Balestrino, Maurizio
Izdano 2012

Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

od Leuzzi, Vincenzo, Mastrangelo, Mario, Polizzi, Agata, Artiola, Cristiana, van Kuilenburg, André B. P., Carducci, Carla, Ruggieri, Martino, Barone, Rita, Tavazzi, Barbara, Abeling, Nico G. G. M., Zoetekouw, Lida, Sofia, Vito, Zappia, Mario, Carducci, Claudia
Izdano u JIMD Rep (2014)

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

od Ng, Joanne, Zhen, Juan, Meyer, Esther, Erreger, Kevin, Li, Yan, Kakar, Naseebullah, Ahmad, Jamil, Thiele, Holger, Kubisch, Christian, Rider, Nicholas L., Holmes Morton, D., Strauss, Kevin A., Puffenberger, Erik G., D’Agnano, Daniela, Anikster, Yair, Carducci, Claudia, Hyland, Keith, Rotstein, Michael, Leuzzi, Vincenzo, Borck, Guntram, Reith, Maarten E. A., Kurian, Manju A.
Izdano 2014