CARDUCCI, Carla

CARDUCCI, Carla  

DIPARTIMENTO DI MEDICINA SPERIMENTALE  

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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
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 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 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
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia 2007 Rosana H., Scola; Carducci, Carla; Vanise G., Amaral; Paulo J., Lorenzoni; Helio A. G., Teive; Giovanniello, Teresa; Lineu C., Werneck
A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia. 2007 A., De Rosa; Carducci, Carla; Antonozzi, Italo; Giovanniello, Teresa; Evgjeni, Xhoxhi; Chiara, Criscuolo; Valeria, Menchise; Salvatore, Striano; Alessandro, Filla; G., De Michele
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.
A study of AGAT and GAMT gene polymorphisms in Italian population. 2004 Carducci, Carla; Battini, R; Artiola, C; Giovanniello, T; Voli, A; Leuzzi, Vincenzo; Antonozzi,
A study of illegitimate transcripts of phenylalanine hydroxylase gene. 2004 Carducci, Carla; Artiola, C; Ellul, L; Pierrella, M; Giovanniello, T; Leuzzi, Vincenzo; Antonozzi, I.
Aberrant Phenylalanine Metabolism in PKU (PAH) Heterozygotes 2012 Nardecchia, Francesca; Carducci, Claudia; Carducci, Carla; D'Agnano, Daniela; Leuzzi, Vincenzo