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

door Leuzzi, Vincenzo, Carducci, Claudia, Chiarotti, Flavia, D’Agnano, Daniela, Giannini, Maria Teresa, Antonozzi, Italo, Carducci, Carla
Gepubliceerd in 2012

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

door Mastrangelo, Mario, Manti, Filippo, Patanè, Luisa, Ferrari, Stefania, Carducci, Carla, Carducci, Claudia, Mangili, Giovanna, Leuzzi, Vincenzo
Gepubliceerd in Mov Disord Clin Pract (2018)

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

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

Age-Related Psychophysiological Vulnerability to Phenylalanine in Phenylketonuria

door Leuzzi, Vincenzo, Mannarelli, Daniela, Manti, Filippo, Pauletti, Caterina, Locuratolo, Nicoletta, Carducci, Carla, Carducci, Claudia, Vanacore, Nicola, Fattapposta, Francesco
Gepubliceerd in 2014

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

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

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

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

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

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

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

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

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

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

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

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

Behavioral and Neurochemical Characterization of New Mouse Model of Hyperphenylalaninemia

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

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

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

door 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
Gepubliceerd in JIMD Rep (2014)

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

door 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.
Gepubliceerd in 2014