CARDUCCI, Claudia
CARDUCCI, Claudia
2 siblings with a new genotype of GAMT deficiency and response to sodium benzoate therapy
2016 Fiori, L; Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; Uggetti, C; Podesta’, Af
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature
2022 Nardecchia, F.; Caciotti, A.; Giovanniello, T.; De Leo, S.; Ferri, L.; Galosi, S.; Santagata, S.; Torres, B.; Bernardini, L.; Carducci, C.; Morrone, A.; Leuzzi, V.
6R-BH4/PHE vs 6R-BH4 loading test in PAH deficient patients
2004 Leuzzi, Vincenzo; Carducci, Claudia; P., Montiri; C., Olita; Carducci, Carla; M., Ferrazzi; Antonozzi, Italo
A mutation on exon 6 of guanidinoacetate methyltrasferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.
2006 Leuzzi, Vincenzo; Carducci, Carla; Carducci, Claudia; Matricardi, Maria; Bianchi, Mc; DI SABATO, Ml; Artiola, C; Antonozzi, Italo
A new asymptomatic case of methylmalonic acidemia (MMA) identified by MS/MS newborn screening
2006 Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; DE LEO, S; Vestri, L; Santagata, Silvia; Pozzessere, Simone; Antonozzi, Italo
A new case of guanidinoacetate methyltransferase (GAMT) deficiency. Clinical, molecular and brain 1H-31P –Magnetic Resonance Spectroscopy (MRS) features.
2003 Leuzzi, Vincenzo; Carducci, Carla; Bianchi, Mc; Tosetti, M; Carducci, Claudia; Battini, R; Matricardi, Maria; DI SABATO, Ml; Antonozzi, Italo
A New Case Of Guanidinoacetatemethyltransferasi (Gamt) Deficency. Clinical, Molecular And Brain H-P-Magnetic Resonance Spectroscopy (Mrs) Features
2003 Leuzzi, Vincenzo; Carducci, Carla; Bianchi, Mc; Tosetti, M; Carducci, Claudia; Battini, R; Matricardi, Maria; Di Sabato, Ml; Antonozzi, I.
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 new case of short/branched-chain AcylCoA dehydrigenase deficiency caused by two novel mutations.
2007 Carducci, Carla; Carducci, Claudia; Leuzzi, Vincenzo; Artiola, Cristiana; Santagata, S; DE LUCA, Teresa; Vestri, L; Antonozzi, Italo
A new form of cerebral folate deficiency with severe self-injurious behaviour
2012 Leuzzi, Vincenzo; Mastrangelo, Mario; Celato, Andrea; Carducci, Claudia; Carducci, Carla
A new therapy prevents intellectual disability in mouse with phenylketonuria
2018 Pascucci, Tiziana; Rossi, Luigia; Colamartino, Marco; Gabucci, Claudia; Carducci, Claudia; Valzania, Alessandro; Sasso, Valeria; Bigini, Noemi; Pierigè, Francesca; Viscomi, Maria Teresa; Ventura, Rossella; Cabib, Simona; Magnani, Mauro; Puglisi-Allegra, Stefano; Leuzzi, Vincenzo
A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy
2012 Giovanniello, Teresa; Daniela, Claps; Carducci, Claudia; Carducci, Carla; Nenad, Blau; Federico, Vigevano; Antonozzi, Italo; Leuzzi, Vincenzo
A NOVEL TYROSINE HYDROXYLASE GENOTYPE ASSOCIATED WITH EARLY ONSET ENCEPHALOPATY.
2009 Leuzzi, Vincenzo; Carducci, Carla; D., Claps; Carducci, Claudia; Giovanniello, Teresa; N., Blau; Antonozzi, Italo
A rapid method for determination of creatine and creatinine in urine by electrospray tandem mass spectrometry: a new tool for the diagnosis of creatine transport deficiency
2008 Carducci, Claudia; Santagata, S; Carducci, Carla; Battini, R; Leuzzi, Vincenzo; Antonozzi, Italo
A rapid method for the determination of creatine and creatinine in urine by electrospray tandem mass spectrometry: A new tool for the diagnosis of creatine trasporter deficiency
2008 Carducci, Claudia; Santagata, S; Carducci, Carla; Battini, R; Leuzzi, Vincenzo; Antonozzi, I.
Aberrant Phenylalanine Metabolism in PKU (PAH) Heterozygotes
2012 Nardecchia, Francesca; Carducci, Claudia; Carducci, Carla; D'Agnano, Daniela; Leuzzi, Vincenzo
Abnormal CSF phenylalanine level in patients presenting with disordersof tetrahydrobiopterin (BH4) metabolism with hyperphenylalaninemia
2016 Celato, A; Mastrangelo, Mario; Burlina, A. P; Polo, G; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Burlina, A. B.
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels
2019 Romani, C; Manti, F; Nardecchia, F; Valentini, F; Fallarino, N; Carducci, C; De Leo, S; Macdonald, A; Palermo, L; Leuzzi, V
Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria.
2014 Leuzzi, Vincenzo; Mannarelli, Daniela; Manti, Filippo; Pauletti, Caterina; Locuratolo, Nicoletta; Carducci, Carla; Carducci, Claudia; Nicola, Vanacore; Fattapposta, Francesco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 2 siblings with a new genotype of GAMT deficiency and response to sodium benzoate therapy | 2016 | Fiori, L; Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; Uggetti, C; Podesta’, Af | |
| 3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature | 2022 | Nardecchia, F.; Caciotti, A.; Giovanniello, T.; De Leo, S.; Ferri, L.; Galosi, S.; Santagata, S.; Torres, B.; Bernardini, L.; Carducci, C.; Morrone, A.; Leuzzi, V. | |
| 6R-BH4/PHE vs 6R-BH4 loading test in PAH deficient patients | 2004 | Leuzzi, Vincenzo; Carducci, Claudia; P., Montiri; C., Olita; Carducci, Carla; M., Ferrazzi; Antonozzi, Italo | |
| A mutation on exon 6 of guanidinoacetate methyltrasferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme. | 2006 | Leuzzi, Vincenzo; Carducci, Carla; Carducci, Claudia; Matricardi, Maria; Bianchi, Mc; DI SABATO, Ml; Artiola, C; Antonozzi, Italo | |
| A new asymptomatic case of methylmalonic acidemia (MMA) identified by MS/MS newborn screening | 2006 | Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; DE LEO, S; Vestri, L; Santagata, Silvia; Pozzessere, Simone; Antonozzi, Italo | |
| A new case of guanidinoacetate methyltransferase (GAMT) deficiency. Clinical, molecular and brain 1H-31P –Magnetic Resonance Spectroscopy (MRS) features. | 2003 | Leuzzi, Vincenzo; Carducci, Carla; Bianchi, Mc; Tosetti, M; Carducci, Claudia; Battini, R; Matricardi, Maria; DI SABATO, Ml; Antonozzi, Italo | |
| A New Case Of Guanidinoacetatemethyltransferasi (Gamt) Deficency. Clinical, Molecular And Brain H-P-Magnetic Resonance Spectroscopy (Mrs) Features | 2003 | Leuzzi, Vincenzo; Carducci, Carla; Bianchi, Mc; Tosetti, M; Carducci, Claudia; Battini, R; Matricardi, Maria; Di Sabato, Ml; Antonozzi, I. | |
| 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 new case of short/branched-chain AcylCoA dehydrigenase deficiency caused by two novel mutations. | 2007 | Carducci, Carla; Carducci, Claudia; Leuzzi, Vincenzo; Artiola, Cristiana; Santagata, S; DE LUCA, Teresa; Vestri, L; Antonozzi, Italo | |
| A new form of cerebral folate deficiency with severe self-injurious behaviour | 2012 | Leuzzi, Vincenzo; Mastrangelo, Mario; Celato, Andrea; Carducci, Claudia; Carducci, Carla | |
| A new therapy prevents intellectual disability in mouse with phenylketonuria | 2018 | Pascucci, Tiziana; Rossi, Luigia; Colamartino, Marco; Gabucci, Claudia; Carducci, Claudia; Valzania, Alessandro; Sasso, Valeria; Bigini, Noemi; Pierigè, Francesca; Viscomi, Maria Teresa; Ventura, Rossella; Cabib, Simona; Magnani, Mauro; Puglisi-Allegra, Stefano; Leuzzi, Vincenzo | |
| A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy | 2012 | Giovanniello, Teresa; Daniela, Claps; Carducci, Claudia; Carducci, Carla; Nenad, Blau; Federico, Vigevano; Antonozzi, Italo; Leuzzi, Vincenzo | |
| A NOVEL TYROSINE HYDROXYLASE GENOTYPE ASSOCIATED WITH EARLY ONSET ENCEPHALOPATY. | 2009 | Leuzzi, Vincenzo; Carducci, Carla; D., Claps; Carducci, Claudia; Giovanniello, Teresa; N., Blau; Antonozzi, Italo | |
| A rapid method for determination of creatine and creatinine in urine by electrospray tandem mass spectrometry: a new tool for the diagnosis of creatine transport deficiency | 2008 | Carducci, Claudia; Santagata, S; Carducci, Carla; Battini, R; Leuzzi, Vincenzo; Antonozzi, Italo | |
| A rapid method for the determination of creatine and creatinine in urine by electrospray tandem mass spectrometry: A new tool for the diagnosis of creatine trasporter deficiency | 2008 | Carducci, Claudia; Santagata, S; Carducci, Carla; Battini, R; Leuzzi, Vincenzo; Antonozzi, I. | |
| Aberrant Phenylalanine Metabolism in PKU (PAH) Heterozygotes | 2012 | Nardecchia, Francesca; Carducci, Claudia; Carducci, Carla; D'Agnano, Daniela; Leuzzi, Vincenzo | |
| Abnormal CSF phenylalanine level in patients presenting with disordersof tetrahydrobiopterin (BH4) metabolism with hyperphenylalaninemia | 2016 | Celato, A; Mastrangelo, Mario; Burlina, A. P; Polo, G; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Burlina, A. B. | |
| Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels | 2019 | Romani, C; Manti, F; Nardecchia, F; Valentini, F; Fallarino, N; Carducci, C; De Leo, S; Macdonald, A; Palermo, L; Leuzzi, V | |
| Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria. | 2014 | Leuzzi, Vincenzo; Mannarelli, Daniela; Manti, Filippo; Pauletti, Caterina; Locuratolo, Nicoletta; Carducci, Carla; Carducci, Claudia; Nicola, Vanacore; Fattapposta, Francesco |