TOLVE, MANUELA

TOLVE, MANUELA  

DIPARTIMENTO DI MEDICINA SPERIMENTALE  

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Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) 2017 Di Salvo, Martino L.; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance 2021 Nuovo, Sara; Baglioni, Valentina; De Mori, Roberta; Tardivo, Silvia; Caputi, Caterina; Ginevrino, Monia; Micalizzi, Alessia; Masuelli, Laura; Federici, Giulia; Casella, Antonella; Lorefice, Elisa; Anello, Danila; Tolve, Manuela; Farini, Donatella; Bertini, Enrico; Zanni, Ginevra; Travaglini, Lorena; Vasco, Gessica; Sette, Claudio; Carducci, Carla; Valente, Enza M.; Leuzzi, Vincenzo
Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142] 2018 di Salvo, Martino L.; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo
Genetic paradoxes in an italian family with PARK2 multiexon duplication 2017 Petrucci, Simona; Ferrazzano, Gina; Ginevrino, Monia; Tolve, Manuela; Berardelli, Isabella; Berardelli, Alfredo; Fabbrini, Giovanni; Valente, ENZA MARIA
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes 2020 Pollini, Luca; Galosi, Serena; Tolve, Manuela; Caputi, Caterina; Carducci, Carla; Angeloni, Antonio; Leuzzi, Vincenzo
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency 2022 Manti, Filippo; Mastrangelo, Mario; Battini, Roberta; Carducci, Claudia; Spagnoli, Carlotta; Fusco, Carlo; Tolve, Manuela; Carducci, Carla; Leuzzi, Vincenzo
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test 2018 Tolve, Manuela; Artiola, Cristiana; Pasquali, Amelia; Giovanniello, Teresa; D'Amici, Sirio; Angeloni, Antonio; Pizzuti, Antonio; Carducci, Claudia; Leuzzi, Vincenzo; Carducci, Carla
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan 2020 Carducci, Carla; Amayreh, Wajdi; Ababneh, Haneen; Mahasneh, Amjad; Al Rababah, Buthaina; Al Qaqa, Kefah; Al Aqeel, Momen; Artiola, Cristiana; Tolve, Manuela; D'Amici, Sirio; Shen, Nan; Yu, Yongguo; Hillert, Alicia; Himmelreich, Nastassja; Okun, Jürgen G.; Hoffmann, Georg F.; Blau, Nenad
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment 2013 Celato, Andrea; Mitola, Chiara; Tolve, Manuela; Giannini, Maria Teresa; De Leo, Sabrina; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo
A NEW CASE OF MALONIC ACIDURIA: EARLY DIAGNOSIS AND TREATMENT 2011 A., Celato; C., Mitola; V., Vitale; Tolve, Manuela; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies 2019 Montioli, Riccardo; Battini, Roberta; Paiardini, Alessandro; Tolve, Manuela; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Borri Voltattorni, Carla
Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder 2019 Caputi, C; Tolve, M; Galosi, S; Inghilleri, M; Carducci, C; Angeloni, A; Leuzzi, V
PRICKLE1-related early onset epileptic encephalopathy 2018 Mastrangelo, M; Tolve, M; Martinelli, M; DI NOIA, S; Parrini, E; Leuzzi, V
Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation 2017 Di Salvo, Martino Luigi; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo
Rest tremor as very early presenting symptom of sepiapterin reductase deficiency (SRD) 2013 Leuzzi, Vincenzo; Carducci, Claudia; Giannini, M. T; Tolve, Manuela; Pignattoni, C; Pasquali, A; Danti, FEDERICA RACHELE; Carducci, Carla
Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency 2021 Di Carlo, E.; Santagata, S.; Sauro, L.; Tolve, M.; Manti, F.; Leuzzi, V.; Angeloni, A.; Carducci, C.
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency 2015 Carducci, Claudia; Santagata, Silvia; Friedman, Jennifer; Pasquini, Elisabetta; Carducci, Carla; Tolve, Manuela; Angeloni, Antonio; Leuzzi, Vincenzo
Very early pattern of movement disorders in sepiapterin reductase deficiency. 2013 Leuzzi, Vincenzo; Carducci, Claudia; Tolve, Manuela; Maria Teresa, Giannini; Angeloni, Antonio; Carducci, Carla