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

Por Leuzzi, Vincenzo, Carducci, Claudia, Chiarotti, Flavia, D’Agnano, Daniela, Giannini, Maria Teresa, Antonozzi, Italo, Carducci, Carla
Publicado em 2012

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

Por Mastrangelo, Mario, Manti, Filippo, Patanè, Luisa, Ferrari, Stefania, Carducci, Carla, Carducci, Claudia, Mangili, Giovanna, Leuzzi, Vincenzo
Publicado no Mov Disord Clin Pract (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 no Mol Genet Metab Rep (2020)

Age-Related Psychophysiological Vulnerability to Phenylalanine in Phenylketonuria

Por Leuzzi, Vincenzo, Mannarelli, Daniela, Manti, Filippo, Pauletti, Caterina, Locuratolo, Nicoletta, Carducci, Carla, Carducci, Claudia, Vanacore, Nicola, Fattapposta, Francesco
Publicado em 2014

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 no Mol Genet Metab Rep (2020)

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

Por Tolve, Manuela, Artiola, Cristiana, Pasquali, Amelia, Giovanniello, Teresa, D’Amici, Sirio, Angeloni, Antonio, Pizzuti, Antonio, Carducci, Claudia, Leuzzi, Vincenzo, Carducci, Carla
Publicado no Methods Protoc (2018)

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

Por El Daker, Sary, Sacchi, Alessandra, Tempestilli, Massimo, Carducci, Claudia, Goletti, Delia, Vanini, Valentina, Colizzi, Vittorio, Lauria, Francesco Nicola, Martini, Federico, Martino, Angelo
Publicado no PLoS One (2015)

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 no Orphanet J Rare Dis (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 no Nutrients (2020)

Behavioral and Neurochemical Characterization of New Mouse Model of Hyperphenylalaninemia

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

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

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

Por 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
Publicado no JIMD Rep (2014)

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Por 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.
Publicado em 2014