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

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

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

由 Mastrangelo, Mario, Manti, Filippo, Patanè, Luisa, Ferrari, Stefania, Carducci, Carla, Carducci, Claudia, Mangili, Giovanna, Leuzzi, Vincenzo
發表在 Mov Disord Clin Pract (2018)

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

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

Age-Related Psychophysiological Vulnerability to Phenylalanine in Phenylketonuria

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

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

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

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

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

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

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

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

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

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

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

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

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

Behavioral and Neurochemical Characterization of New Mouse Model of Hyperphenylalaninemia

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

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

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

由 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
發表在 JIMD Rep (2014)

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

由 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.
出版 2014