Sfoglia per Autore
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
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
Very early pattern of movement disorders in sepiapterin reductase deficiency.
2013 Leuzzi, Vincenzo; Carducci, Claudia; Tolve, Manuela; Maria Teresa, Giannini; Angeloni, Antonio; Carducci, Carla
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
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
Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase
2016 Tolve, Manuela; Paiardini, Alessandro; Janson, Giacomo; Artiola, Cristiana; Scarno, G; Giovanniello, Teresa; Pasquali, Amelia; Angeloni, Antonio; Carducci, Claudia; Leuzzi, Vincenzo; Carducci, Carla
Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS)
2016 Giovanniello, Teresa; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Santagata, Silvia; Carducci, Carla; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo
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
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
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
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
PRICKLE1-related early onset epileptic encephalopathy
2018 Mastrangelo, M; Tolve, M; Martinelli, M; DI NOIA, S; Parrini, E; Leuzzi, V
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
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
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
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
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male
2020 Pollini, L.; Tolve, M.; Nardecchia, F.; Galosi, S.; Carducci, C.; di Carlo, E.; Carducci, C.; Leuzzi, V.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
2020 Marti-Sanchez, L.; Baide-Mairena, H.; Marce-Grau, A.; Pons, R.; Skouma, A.; Lopez-Laso, E.; Sigatullina, M.; Rizzo, C.; Semeraro, M.; Martinelli, D.; Carrozzo, R.; Dionisi-Vici, C.; Gonzalez-Gutierrez-Solana, L.; Correa-Vela, M.; Ortigoza-Escobar, J. D.; Sanchez-Montanez, A.; Vazquez, E.; Delgado, I.; Aguilera-Albesa, S.; Yoldi, M. E.; Ribes, A.; Tort, F.; Pollini, L.; Galosi, S.; Leuzzi, V.; Tolve, M.; Perez-Gay, L.; Aldamiz-Echevarria, L.; Del Toro, M.; Arranz, A.; Roelens, F.; Urreizti, R.; Artuch, R.; Macaya, A.; Perez-Duenas, B.
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.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| 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 | |
| Very early pattern of movement disorders in sepiapterin reductase deficiency. | 2013 | Leuzzi, Vincenzo; Carducci, Claudia; Tolve, Manuela; Maria Teresa, Giannini; Angeloni, Antonio; Carducci, Carla | |
| 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 | |
| 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 | |
| Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase | 2016 | Tolve, Manuela; Paiardini, Alessandro; Janson, Giacomo; Artiola, Cristiana; Scarno, G; Giovanniello, Teresa; Pasquali, Amelia; Angeloni, Antonio; Carducci, Claudia; Leuzzi, Vincenzo; Carducci, Carla | |
| Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS) | 2016 | Giovanniello, Teresa; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Santagata, Silvia; Carducci, Carla; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| PRICKLE1-related early onset epileptic encephalopathy | 2018 | Mastrangelo, M; Tolve, M; Martinelli, M; DI NOIA, S; Parrini, E; Leuzzi, V | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male | 2020 | Pollini, L.; Tolve, M.; Nardecchia, F.; Galosi, S.; Carducci, C.; di Carlo, E.; Carducci, C.; Leuzzi, V. | |
| Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene | 2020 | Marti-Sanchez, L.; Baide-Mairena, H.; Marce-Grau, A.; Pons, R.; Skouma, A.; Lopez-Laso, E.; Sigatullina, M.; Rizzo, C.; Semeraro, M.; Martinelli, D.; Carrozzo, R.; Dionisi-Vici, C.; Gonzalez-Gutierrez-Solana, L.; Correa-Vela, M.; Ortigoza-Escobar, J. D.; Sanchez-Montanez, A.; Vazquez, E.; Delgado, I.; Aguilera-Albesa, S.; Yoldi, M. E.; Ribes, A.; Tort, F.; Pollini, L.; Galosi, S.; Leuzzi, V.; Tolve, M.; Perez-Gay, L.; Aldamiz-Echevarria, L.; Del Toro, M.; Arranz, A.; Roelens, F.; Urreizti, R.; Artuch, R.; Macaya, A.; Perez-Duenas, B. | |
| 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. |
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