CARDUCCI, Claudia

CARDUCCI, Claudia  

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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 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 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
Age–related psychophysiological vulnerability to phenylalanine in young-adult phenylketonuric subjects 2014 Leuzzi, Vincenzo; Mannarelli, Daniela; Manti, Filippo; Pauletti, Caterina; Locuratolo, Nicoletta; Carducci, Carla; Carducci, Claudia; N., Vanacore; Fattapposta, Francesco
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency 2017 Nardecchia, Francesca; Chiarotti, Flavia; Carducci, Claudia; Santagata, Silvia; Valentini, Giulia; Angeloni, Antonio; Blau, Nenad; Leuzzi, Vincenzo
Analisi biochimica e molecolare di un nuovo caso di deficit di guanidinoacetato metiltrasferasi . 2000 Carducci, Carla; Prudente, S; Mercuri, L; Carducci, Claudia; Leuzzi, Vincenzo; Antonozzi, Italo
Ap1s2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 2018 Cappuccio, Gerarda; Torella Anna, Laura; Mastrangelo, Mario; Carducci, Claudia; Nigro, Vincenzo; Tudp, ; Brunetti-Pierri, Nicola; Leuzzi, Vincenzo